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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DENND4A	10260	broad.mit.edu	37	15	65983020	65983020	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr15:65983020C>T	uc002api.3	-	22	4294	c.3909G>A	c.(3907-3909)gtG>gtA	p.V1303V	DENND4A_uc002aph.3_Silent_p.V1260V|DENND4A_uc002apj.3_Silent_p.V1260V	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGTAAGTCTCACTGGCTTAG	0.413000														57			21		0	0	0.003330	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775493	234775493	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr2:234775493T>C	uc010znf.2	-	1	587	c.349A>G	c.(349-351)Aaa>Gaa	p.K117E						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		GTCACCTTTTTATACTGAGCT	0.393000														87			3		0	0	0.009096	0	0
KIAA1468	57614	broad.mit.edu	37	18	59888685	59888685	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr18:59888685C>T	uc002lil.3	+	4	1028	c.813C>T	c.(811-813)aaC>aaT	p.N271N	KIAA1468_uc002lik.1_Silent_p.N271N|KIAA1468_uc010xel.2_Silent_p.N271N|KIAA1468_uc002lim.3_5'UTR	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	271	LisH.						binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGAAGAATAACTATAAGCTTA	0.303000														57			24		0	0	0.003954	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														41			3		0	0	0.004672	0	0
CIITA	4261	broad.mit.edu	37	16	10992850	10992850	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:10992850C>A	uc002daj.4	+	4	563	c.430C>A	c.(430-432)Cag>Aag	p.Q144K	CIITA_uc002dai.4_Missense_Mutation_p.Q143K|CIITA_uc002dak.4_Missense_Mutation_p.Q143K|CIITA_uc002dag.2_Missense_Mutation_p.Q143K|CIITA_uc002dah.2_Missense_Mutation_p.Q144K|CIITA_uc010bup.1_Missense_Mutation_p.Q143K	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	143					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	ATP binding|activating transcription factor 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						GCAGAAAAGTCAGAAAAGACG	0.507000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									95			22		1.64293e-13	2.04042e-13	0.003330	1	0
FAM75D1	389763	broad.mit.edu	37	9	84607771	84607771	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:84607771G>T	uc004amn.3	+	3	2433	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	796						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						TTCAGACAAGGATCTGAGGTC	0.463000														54			31		2.85442e-18	3.78948e-18	0.010818	1	0
ANKRD11	29123	broad.mit.edu	37	16	89349917	89349917	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:89349917C>G	uc002fmx.1	-	8	3494	c.3033G>C	c.(3031-3033)aaG>aaC	p.K1011N	ANKRD11_uc002fmy.1_Missense_Mutation_p.K1011N|ANKRD11_uc002fnc.1_Missense_Mutation_p.K1011N|ANKRD11_uc002fnb.1_Missense_Mutation_p.K968N	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1011	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCCATCCTTCTTCTCCTTCT	0.517000														45			64		0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970797	47970797	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:47970797G>A	uc003tny.2	-	5	675	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	214					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTCTCCATCGTGACAGTCCC	0.617000														45			21		0	0	0.012319	0	0
OR13G1	441933	broad.mit.edu	37	1	247835611	247835611	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:247835611C>G	uc001idi.1	-	0	733	c.733G>C	c.(733-735)Gtg>Ctg	p.V245L		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAGGGTCACCACTGTGAGA	0.448000														80			26		0	0	0.005443	0	0
SLC9C2	284525	broad.mit.edu	37	1	173505010	173505010	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:173505010G>T	uc001giz.2	-	14	2157	c.1734C>A	c.(1732-1734)ttC>ttA	p.F578L	SLC9C2_uc009wwe.2_Missense_Mutation_p.F136L|SLC9C2_uc010pmq.1_Intron	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	578					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.F578L(1)									AATATTCCAAGAAAGTTAAAA	0.259000														74			25		5.45024e-15	6.87981e-15	0.003330	1	0
CSMD3	114788	broad.mit.edu	37	8	113249531	113249531	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:113249531G>T	uc003ynu.3	-	66	10674	c.10515C>A	c.(10513-10515)taC>taA	p.Y3505*	CSMD3_uc003yns.3_Nonsense_Mutation_p.Y2707*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.Y3465*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Y3336*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3505						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGAAATTGTAAGAGCCTT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				57			34		9.78485e-24	1.39525e-23	0.013726	1	0
ZNF767	79970	broad.mit.edu	37	7	149318520	149318520	+	RNA	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:149318520G>T	uc003wfy.3	-	1		c.380C>A			ZNF767_uc003wfx.2_Non-coding_Transcript|ZNF767_uc011kuq.1_Non-coding_Transcript					Homo sapiens zinc finger family member 767 (ZNF767), transcript variant 2, non-coding RNA.											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			CTCCACGGCTGTCTTCTCGCA	0.617000														50			46		3.4597e-24	5.02636e-24	0.014410	1	0
SHISA2	387914	broad.mit.edu	37	13	26620708	26620708	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr13:26620708C>G	uc001uqm.1	-	1	916	c.831G>C	c.(829-831)caG>caC	p.Q277H		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	277					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGAAGGGGGACTGAATCTGCC	0.567000														46			21		0	0	0.003954	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832921	34832921	+	Silent	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:34832921G>A	uc002nvd.4	+	9	2941	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	694										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGCCGTCACTGCCTGTGCCCC	0.632000														58			23		0	0	0.006320	0	0
TPK1	27010	broad.mit.edu	37	7	144245631	144245631	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:144245631C>A	uc003weq.3	-	7	669	c.566G>T	c.(565-567)gGa>gTa	p.G189V	TPK1_uc003weo.3_Missense_Mutation_p.G135V|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Missense_Mutation_p.G140V|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	189					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ACAAGGCTGTCCAACAGGAAT	0.418000														60			49		3.56336e-21	4.89962e-21	0.014410	1	0
SIN3A	25942	broad.mit.edu	37	15	75692465	75692465	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr15:75692465C>T	uc002bai.3	-	11	2029	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	SIN3A_uc002baj.3_Silent_p.S590S|SIN3A_uc010uml.2_Silent_p.S590S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	590	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCTCAGACCACGAAGGGAAGG	0.393000														51			29		0	0	0.006320	0	0
FAM110B	90362	broad.mit.edu	37	8	59059734	59059734	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:59059734C>T	uc022auu.1	+	0	945	c.945C>T	c.(943-945)agC>agT	p.S315S	FAM110B_uc003xtj.1_Silent_p.S315S	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	315						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCATGATCAGCTCAGACTGTG	0.483000														26			18		0	0	0.004990	0	0
TTC17	55761	broad.mit.edu	37	11	43380551	43380551	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:43380551G>A	uc001mxi.3	+	0	117	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	TTC17_uc001mxh.3_Missense_Mutation_p.C16Y	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	16							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTGCCGCCTTGCTCCGGCCCA	0.711000														10			10		0	0	0.006214	0	0
GPRASP1	9737	broad.mit.edu	37	X	101908967	101908967	+	Silent	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:101908967C>A	uc010nod.3	+	2	768	c.126C>A	c.(124-126)acC>acA	p.T42T	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.T42T|GPRASP1_uc004ejj.4_Silent_p.T42T|GPRASP1_uc004eji.4_Silent_p.T42T|GPRASP1_uc022cbd.1_Silent_p.T42T	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	42						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTTAGGACCCAGGCCCAGA	0.562000														114			4		0.00909568	0.00959407	0.009096	1	0
SPATA13	221178	broad.mit.edu	37	13	24825881	24825881	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr13:24825881C>A	uc001upd.2	+	5	2623	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.A682D|SPATA13_uc001upg.2_Missense_Mutation_p.A57D|SPATA13_uc010tcy.1_Missense_Mutation_p.A3D|SPATA13_uc010tcz.2_Missense_Mutation_p.A3D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	57					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCATGCCTGCTCACCAGGTG	0.622000														56			37		1.07121e-22	1.49969e-22	0.006999	1	0
MLL3	58508	broad.mit.edu	37	7	151845739	151845739	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:151845739C>A	uc003wla.3	-	51	13492	c.13273G>T	c.(13273-13275)Gat>Tat	p.D4425Y	MLL3_uc003wkz.3_Missense_Mutation_p.D3543Y|MLL3_uc003wkx.3_Missense_Mutation_p.D583Y|MLL3_uc003wky.3_Missense_Mutation_p.D1989Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4425					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCACAGATCCAAGTCAAGG	0.502000			N		medulloblastoma									51			39		2.66277e-13	3.25449e-13	0.006999	1	0
SAMD5	389432	broad.mit.edu	37	6	147830100	147830100	+	Silent	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr6:147830100G>A	uc003qmc.2	+	0	273	c.36G>A	c.(34-36)gcG>gcA	p.A12A		NM_001030060	NP_001025231	Q5TGI4	SAMD5_HUMAN	Homo sapiens sterile alpha motif domain containing 5 (SAMD5), mRNA.	12	SAM.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGCTCAAAGCGCTGCAGCTTC	0.637000														36			7		0	0	0.004482	0	0
PKD1	5310	broad.mit.edu	37	16	2142592	2142592	+	Splice_Site	SNP	A	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:2142592A>C	uc002cos.1	-	39	11366	c.11157_splice	c.e39-1	p.R3719_splice	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Splice_Site_p.R3718_splice|MIR1225_uc021tap.1_5'Flank|PKD1_uc010bse.1_Splice_Site	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3719			R -> Q (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCTCCTCAGACCTGCCACAG	0.687000														15			4		0	0	0.008291	0	0
MYO15A	51168	broad.mit.edu	37	17	18082124	18082124	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr17:18082124C>A	uc021trm.1	+	64	10752	c.10533C>A	c.(10531-10533)aaC>aaA	p.N3511K	BC038464_uc002gsn.2_Intron|MYO15A_uc021trl.1_Missense_Mutation_p.N3509K|MYO15A_uc010vxi.2_Missense_Mutation_p.P793T|MYO15A_uc002gsl.3_Missense_Mutation_p.P544T|MYO15A_uc010vxm.2_3'UTR|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3511	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGTGGAGAACCTGCTCAGTG	0.617000														33			44		1.47857e-17	1.92966e-17	0.014410	1	0
OR1B1	347169	broad.mit.edu	37	9	125391500	125391500	+	Silent	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:125391500G>A	uc011lyz.2	-	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ATGCATAGAAGAAAAAGAACT	0.502000														27			18		0	0	0.007413	0	0
GPR34	2857	broad.mit.edu	37	X	41555435	41555435	+	Silent	SNP	T	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:41555435T>A	uc022bvc.1	+	0	549	c.549T>A	c.(547-549)ctT>ctA	p.L183L	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Silent_p.L183L|GPR34_uc004dfq.4_Silent_p.L183L|GPR34_uc010nhg.3_Silent_p.L183L|GPR34_uc004dfr.4_Silent_p.L183L	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	183						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TGCTTGCTCTTGGTGGATTCC	0.353000														9			44		0	0	0.009718	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|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		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				55			4		0	0	0.009096	0	0
DMPK	1760	broad.mit.edu	37	19	46280763	46280763	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:46280763G>A	uc002pdi.1	-	8	1232	c.1046C>T	c.(1045-1047)aCa>aTa	p.T349I	DMPK_uc010xxs.1_Missense_Mutation_p.T234I|DMPK_uc002pdd.1_Missense_Mutation_p.T333I|DMPK_uc002pde.1_Missense_Mutation_p.T333I|DMPK_uc002pdg.1_Missense_Mutation_p.T323I|DMPK_uc002pdf.1_Missense_Mutation_p.T323I|DMPK_uc002pdh.1_Missense_Mutation_p.T323I|DMPK_uc010xxt.1_Missense_Mutation_p.T323I	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	333	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCCCAGCCGTGTCTCCGGGGG	0.647000														35			26		0	0	0.006320	0	0
JAK1	3716	broad.mit.edu	37	1	65344759	65344759	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:65344759C>T	uc001dbu.1	-	3	527	c.278G>A	c.(277-279)cGc>cAc	p.R93H	JAK1_uc009wam.1_Missense_Mutation_p.R93H|JAK1_uc001dbv.3_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	93	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.N92D(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGTGATGGTGCGATTTGGAGC	0.507000			Mis		ALL									16			20		0	0	0.010504	0	0
USP28	57646	broad.mit.edu	37	11	113679909	113679909	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:113679909G>T	uc001poh.3	-	16	2073	c.2040C>A	c.(2038-2040)taC>taA	p.Y680*	USP28_uc001pog.3_Nonsense_Mutation_p.Y388*|USP28_uc010rwy.2_Nonsense_Mutation_p.Y555*|USP28_uc001poi.3_Nonsense_Mutation_p.Y35*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	680					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTCCTGAATGTAATGCTTGA	0.463000														476			5		0.00198382	0.00215146	0.001984	1	0
DENND3	22898	broad.mit.edu	37	8	142186773	142186773	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:142186773C>T	uc003yvy.3	+	14	2657	c.2379C>T	c.(2377-2379)ttC>ttT	p.F793F	DENND3_uc010mep.3_Silent_p.F754F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	793										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGAAGTCTTCGAAGCCAACC	0.512000														44			36		0	0	0.003271	0	0
FAM83H	286077	broad.mit.edu	37	8	144809117	144809117	+	Silent	SNP	G	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:144809117G>C	uc003yzk.3	-	4	2583	c.2514C>G	c.(2512-2514)gcC>gcG	p.A838A		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	838					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTGGCTCTGGGCAGAGAGGA	0.701000														13			7		0	0	0.003080	0	0
ANXA3	306	broad.mit.edu	37	4	79531260	79531260	+	Silent	SNP	A	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr4:79531260A>T	uc003hld.3	+	12	1273	c.963A>T	c.(961-963)ggA>ggT	p.G321G		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	321					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCTGTGGTGGAGATGACTGAA	0.373000														32			29		0	0	0.013726	0	0
SVEP1	79987	broad.mit.edu	37	9	113141740	113141740	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:113141740T>C	uc010mtz.3	-	43	10632	c.10295A>G	c.(10294-10296)tAt>tGt	p.Y3432C	SVEP1_uc010mty.3_Missense_Mutation_p.Y1358C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3432	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCCATATTGATAATGTACGCC	0.403000														30			29		0	0	0.007291	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72517740	72517740	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr10:72517740G>T	uc001jrg.3	+	19	2969	c.2969G>T	c.(2968-2970)gGc>gTc	p.G990V	ADAMTS14_uc001jrh.3_Missense_Mutation_p.G987V	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	987	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGGAGAGGGCATCCAGCAG	0.652000														77			40		2.95478e-19	3.99154e-19	0.008740	1	0
CSMD3	114788	broad.mit.edu	37	8	113249566	113249566	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:113249566C>A	uc003ynu.3	-	66	10639	c.10480G>T	c.(10480-10482)Gta>Tta	p.V3494L	CSMD3_uc003yns.3_Missense_Mutation_p.V2696L|CSMD3_uc003ynt.3_Missense_Mutation_p.V3454L|CSMD3_uc011lhx.2_Missense_Mutation_p.V3325L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3494						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGGCAAATACATCATCAGGA	0.303000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				43			22		1.50039e-11	1.80516e-11	0.012319	1	0
CNFN	84518	broad.mit.edu	37	19	42893120	42893120	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:42893120A>G	uc002otq.4	-	2	205	c.109T>C	c.(109-111)Tgg>Cgg	p.W37R	CNFN_uc002otp.4_Missense_Mutation_p.W24R	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN	Homo sapiens cornifelin (CNFN), mRNA.	24	Cys-rich.				keratinization	cornified envelope|cytoplasm				lung(1)|prostate(1)	2		Prostate(69;0.00899)				CCTGTGTGCCAGTCACTGAGC	0.617000														13			20		0	0	0.010504	0	0
PRKCG	5582	broad.mit.edu	37	19	54385815	54385815	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:54385815G>T	uc002qcq.1	+	0	349	c.67G>T	c.(67-69)Ggg>Tgg	p.G23W	PRKCG_uc010eqz.1_Missense_Mutation_p.G23W|PRKCG_uc010yef.1_Missense_Mutation_p.G23W|PRKCG_uc010yeg.1_Missense_Mutation_p.G23W|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	23					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGCAGAAAGGGGGCCCTGAG	0.627000														74			60		4.46356e-37	6.6095e-37	0.014410	1	0
SMARCA2	6595	broad.mit.edu	37	9	2110312	2110312	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr9:2110312C>T	uc003zhc.3	+	23	3450	c.3351C>T	c.(3349-3351)tcC>tcT	p.S1117S	SMARCA2_uc003zhd.3_Silent_p.S1117S|SMARCA2_uc010mha.3_Silent_p.S1050S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1117	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AACCTGGATCCCAGTATTTCA	0.453000														59			24		0	0	0.003954	0	0
GRPEL2	134266	broad.mit.edu	37	5	148730749	148730749	+	Silent	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:148730749C>T	uc003lqj.3	+	3	708	c.582C>T	c.(580-582)acC>acT	p.T194T	GRPEL2_uc011dca.2_3'UTR	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	194					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGCACCGTGGCATTAG	0.527000														58			34		0	0	0.013726	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20394630	20394630	+	RNA	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr22:20394630C>A	uc010gsf.1	-	4		c.565G>T			PI4KAP1_uc010gsg.2_Non-coding_Transcript|PI4KAP1_uc011ahn.1_Non-coding_Transcript|PI4KAP1_uc010gsj.2_Non-coding_Transcript|PI4KAP1_uc010gsk.2_Non-coding_Transcript|PI4KAP1_uc010gsl.3_Non-coding_Transcript					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		TAACTGCTCCCGGAGGTCGCC	0.562000														23			3		8.12818e-05	8.941e-05	0.001984	1	0
OR13A1	79290	broad.mit.edu	37	10	45799786	45799786	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr10:45799786C>T	uc001jcc.1	-	3	394	c.85G>A	c.(85-87)Gag>Aag	p.E29K	OR13A1_uc001jcd.1_Missense_Mutation_p.E25K|OR13A1_uc021ppq.1_Missense_Mutation_p.E29K	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E29K(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGATGAACTCGGTTACCAAC	0.517000														39			37		0	0	0.003271	0	0
PTPRN2	5799	broad.mit.edu	37	7	157985171	157985171	+	Missense_Mutation	SNP	C	T	T	rs140977880	byFrequency	TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr7:157985171C>T	uc003wno.3	-	4	518	c.397G>A	c.(397-399)Gtt>Att	p.V133I	PTPRN2_uc003wnp.3_Missense_Mutation_p.V116I|PTPRN2_uc003wnq.3_Missense_Mutation_p.V133I|PTPRN2_uc003wnr.3_Missense_Mutation_p.V95I|PTPRN2_uc011kwa.2_Missense_Mutation_p.V156I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	133						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V133I(4)|p.V133F(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCGCTGCCAACGCTGTGTTTT	0.632000														48			10		0	0	0.010729	0	0
MYBL1	4603	broad.mit.edu	37	8	67477040	67477040	+	Silent	SNP	T	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:67477040T>A	uc003xwj.3	-	15	2558	c.2151A>T	c.(2149-2151)acA>acT	p.T717T	MYBL1_uc003xwl.3_Silent_p.T657T|MYBL1_uc003xwk.3_Silent_p.T656T	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	717					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E716G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATAAACCACTGTTTCCCATT	0.328000														6			4		0	0	0.009096	0	0
PICALM	8301	broad.mit.edu	37	11	85714416	85714416	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:85714416C>A	uc001pbm.3	-	8	1203	c.886G>T	c.(886-888)Gca>Tca	p.A296S	PICALM_uc001pbl.3_Missense_Mutation_p.A296S|PICALM_uc001pbn.3_Missense_Mutation_p.A296S|PICALM_uc010rtl.2_Missense_Mutation_p.A245S|PICALM_uc010rtk.2_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	296					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TACCTGCTTGCAGCTGTAGAA	0.388000			T	"""MLLT10, MLL"""	"""TALL, AML, """									53			21		1.96895e-08	2.29711e-08	0.002780	1	0
PCDHB5	26167	broad.mit.edu	37	5	140517124	140517124	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:140517124C>G	uc003liq.3	+	0	2325	c.2108C>G	c.(2107-2109)tCg>tGg	p.S703W		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.701000														176			5		0	0	0.001168	0	0
HIVEP2	3097	broad.mit.edu	37	6	143090729	143090729	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr6:143090729C>T	uc003qjd.3	-	4	5890	c.5147G>A	c.(5146-5148)gGc>gAc	p.G1716D		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGTAAGCTTGCCGGTTCCAGG	0.433000														119			4		0	0	0.009096	0	0
EIF1AX	1964	broad.mit.edu	37	X	20152121	20152121	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:20152121C>A	uc004czt.3	-	3	417	c.209G>T	c.(208-210)tGg>tTg	p.W70L		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	70	S1-like.					cytosol	translation initiation factor activity	p.W70C(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GGTATTTATCCAAACCTACAA	0.323000														9			15		3.52763e-06	3.99452e-06	0.004990	1	0
MYOM2	9172	broad.mit.edu	37	8	2044224	2044224	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:2044224A>G	uc003wpx.4	+	17	2401	c.2263A>G	c.(2263-2265)Aaa>Gaa	p.K755E	MYOM2_uc011kwi.2_Missense_Mutation_p.K180E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	755	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGTTCACCATAAAAACTGGCA	0.517000														43			21		0	0	0.008871	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	G	G			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:186276981A>G	uc001gru.4	+	6	2181	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.K669K|PRG4_uc009wyl.3_Silent_p.K617K|PRG4_uc009wym.3_Silent_p.K576K|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000														210			4		0	0	0.000602	0	0
EBF2	64641	broad.mit.edu	37	8	25766022	25766022	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr8:25766022C>A	uc003xes.2	-	6	866	c.601G>T	c.(601-603)Gca>Tca	p.A201S	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	201	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.A201A(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGGTTTCCTGCTGTTTTCAAA	0.378000														26			19		3.62473e-10	4.29391e-10	0.012319	1	0
SNX7	51375	broad.mit.edu	37	1	99150445	99150445	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:99150445C>A	uc010ouc.2	+	1	237	c.185C>A	c.(184-186)gCc>gAc	p.A62D	SNX7_uc001dsa.3_5'UTR|SNX7_uc010oud.2_Missense_Mutation_p.A62D	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	200	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TCTTAGGATGCCTCATTGATG	0.303000														60			31		2.42023e-17	3.10596e-17	0.003271	1	0
LARS	51520	broad.mit.edu	37	5	145533344	145533344	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:145533344C>T	uc003lnx.1	-	11	1421	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	LARS_uc011dbq.1_Missense_Mutation_p.D349N|LARS_uc011dbr.1_Missense_Mutation_p.D341N|LARS_uc011dbs.1_Missense_Mutation_p.D368N	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	395	Editing domain.				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCAGGGGAGTCGGAAGGAACA	0.363000														28			26		0	0	0.006320	0	0
NTRK1	4914	broad.mit.edu	37	1	156837966	156837966	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:156837966C>A	uc001fqh.1	+	4	555	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	NTRK1_uc001fqf.1_Missense_Mutation_p.L137M|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.L167M|NTRK1_uc009wsk.1_Missense_Mutation_p.L167M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	167	LRRCT.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGAGGAGGGACTGGGCGGAGT	0.657000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				128			4		2.56e-06	2.94209e-06	0.009096	1	0
RHPN2	85415	broad.mit.edu	37	19	33503622	33503622	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:33503622G>C	uc002nuf.3	-	4	465	c.399C>G	c.(397-399)atC>atG	p.I133M	RHPN2_uc010xro.2_5'UTR|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	133	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AATGTTCCAGGATAAAATCCT	0.348000														25			23		0	0	0.014323	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618800	7618800	+	Missense_Mutation	SNP	C	G	G	rs17851928		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr11:7618800C>G	uc001mfj.4	+	4	770	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	PPFIBP2_uc010rbb.1_Missense_Mutation_p.L51V|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.L51V|PPFIBP2_uc010rbd.1_5'UTR|PPFIBP2_uc010rbe.2_Missense_Mutation_p.L16V	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	128				L -> I (in Ref. 2; AAH21714).	DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTGAGTGTCCTCACAGACCA	0.512000														6			7		0	0	0.004482	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr12:57566959C>A	uc001snd.3	+	20	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(6)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			5		1.23904e-05	1.3827e-05	0.000602	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230750	36230750	+	Silent	SNP	G	C	C			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr19:36230750G>C	uc002obd.4	-	3	849	c.582C>G	c.(580-582)gcC>gcG	p.A194A	IGFLR1_uc002obb.3_Intron|IGFLR1_uc002obc.3_Silent_p.A194A|IGFLR1_uc010xsy.2_Non-coding_Transcript|IGFLR1_uc010eej.3_Silent_p.A274A	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	Homo sapiens IGF-like family receptor 1 (IGFLR1), mRNA.	194						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GATAGGGGTCGGCTTTCTCCT	0.617000														74			57		0	0	0.014410	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	DEL	T	-	-			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr1:700532delT	uc001abo.3	-	6		c.1084delA								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453													---	3	---	---	3	---					
COL4A3BP	10087	broad.mit.edu	37	5	74712823	74712828	+	In_Frame_Del	DEL	TACCAT	-	-			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr5:74712823_74712828delTACCAT	uc011csu.2	-	6	1132_1137	c.710_715delATGGTA	c.(709-717)aatggtata>ata	p.NG237del	COL4A3BP_uc003kds.3_In_Frame_Del_p.NG237del|COL4A3BP_uc003kdt.3_In_Frame_Del_p.NG365del|COL4A3BP_uc003kdu.2_In_Frame_Del_p.NG237del	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	237					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAAAGTCTATACCATTAATTCCTTT	0.320													---	48	---	---	26	---					
TXNRD1	7296	broad.mit.edu	37	12	104721450	104721453	+	Splice_Site	DEL	GTGA	-	-			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr12:104721450_104721453delGTGA	uc021rcx.1	+	13	1564	c.1542_splice	c.e13+1	p.K514_splice	TXNRD1_uc021rcy.1_Splice_Site_p.K416_splice|TXNRD1_uc021rcz.1_Splice_Site_p.K364_splice|TXNRD1_uc021rda.1_Splice_Site_p.K364_splice|TXNRD1_uc021rdb.1_Splice_Site_p.K364_splice|TXNRD1_uc010swp.2_Splice_Site_p.K326_splice|TXNRD1_uc010swq.2_Splice_Site_p.K414_splice|TXNRD1_uc001tku.3_Splice_Site|TXNRD1_uc009zun.3_Splice_Site_p.K430_splice	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	514					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CACTGTCAAGGTGAGTGTTGTGCT	0.466													---	15	---	---	9	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	465	---	---	21	---					
BCORL1	63035	broad.mit.edu	37	X	129173153	129173154	+	Frame_Shift_Ins	INS	-	CTGG	CTGG			TCGA-BQ-5893-01A-11D-1589-08	TCGA-BQ-5893-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3f8ab09-b776-4ca3-9b9d-f9848542f3dd	bbfe1ddb-1749-401c-b2f8-9b0854ae7d23	g.chrX:129173153_129173154insCTGG	uc022cdu.1	+	8	4558_4559	c.4514_4515insCTGG	c.(4513-4515)atcfs	p.I1505fs	BCORL1_uc004evc.2_Frame_Shift_Ins_p.I341fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1505					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTGGAGACCATCTGGCTCCTGC	0.574													---	19	---	---	22	---					
