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
INPP5B	3633	broad.mit.edu	37	1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373023.2	-	24	3045	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGGTGAATAAATTCTTGAG	0.458													13	38	---	---	---	---
CAD	790	broad.mit.edu	37	2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	632	ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTGAGTCCATAGTGGTGGCCC	0.567													18	29	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAGTAGATGCCACTGTC	0.542													40	33	---	---	---	---
IL36RN	26525	broad.mit.edu	37	2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632													7	8	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000292301.4	+	2	1079	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Missense_Mutation_p.W198C	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACGAGGATGGAATAATTTCC	0.463													5	178	---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125176113	125176113	+	Silent	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TACTCACCCCAGTTACCAGTT	0.473													4	57	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCCAGGAGTCTCCCAGCAGC	0.677													5	16	---	---	---	---
HLA-DQA2	3118	broad.mit.edu	37	6	32714045	32714045	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATGTCAGAGCTCACAGAGA	0.557													23	51	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13975392	13975392	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000343495.5	-	7	1179	c.441C>T	c.(439-441)ttC>ttT	p.F147F	ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000476720.2_5'UTR			P50549	ETV1_HUMAN	ets variant 1	165					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGAGCTGGGAAGGCCCGGT	0.552			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								84	70	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATTGCAGAACCCATCAAACAG	0.328									SC Phocomelia syndrome				14	8	---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000520103.1_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000357039.4_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACATCCTATGGTGTGAGGCAT	0.433													17	92	---	---	---	---
ZNF483	158399	broad.mit.edu	37	9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408													12	54	---	---	---	---
AP3M1	26985	broad.mit.edu	37	10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ACATTTCTTCTAAGAGTTCAT	0.358													10	29	---	---	---	---
CCDC172	374355	broad.mit.edu	37	10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GAATCCATTTGTACTACCAAA	0.274													3	22	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGGAACAGCGGGCTGCTGGG	0.667													30	40	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGAAACAAGAGGTGCACCATT	0.353													6	39	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTTTGCTCAGTCTGGAGGAA	0.398													40	46	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCCGCCCCCGGGGAGCT	0.652													16	39	---	---	---	---
SERPINA9	327657	broad.mit.edu	37	14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000337425.5	-	5	1276	c.1202C>A	c.(1201-1203)tCt>tAt	p.S401Y	SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488													8	48	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34527452	34527452	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000560164.1_Silent_p.K909K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTCATGGGACTTGTTAACTA	0.458													9	18	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31090753	31090753	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597													64	52	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433													8	52	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1607						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						CTGATCTCAGCATCCAGTGTG	0.463													27	95	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393331.3	-	6	730	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)			45	40	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6854100	6854100	+	Silent	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000304076.2	+	25	2503	c.2409C>A	c.(2407-2409)atC>atA	p.I803I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000539284.1_Silent_p.I728I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGGGGAGATCTATGGCCGGG	0.612													3	40	---	---	---	---
CLASRP	11129	broad.mit.edu	37	19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000544944.2	+	6	1273	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T|CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGAGAGCAACTCGGACGAA	0.617													12	13	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418													43	7	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128679013	128679013	+	Splice_Site	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000357121.5_Splice_Site_p.Q66H|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GATGTGTTCAAGGTACTAGCT	0.333													23	2	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGCAACGGGAAGCTGAGAGG	0.602													14	31	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCTGTAGCATTTTTGTCCAT	0.356													42	27	---	---	---	---
