Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662000													5	18					0	0	0.001168	0	0
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:3658496G>A	ENST00000294008.3	-	2	1110	c.470C>T	c.(469-471)gCa>gTa	p.A157V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	157	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A157V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522000								Direct reversal of damage					6	142					0	0	0.001984	0	0
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473000													12	158					1.08611e-07	1.3935e-07	0.000978	1	0
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	48					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338000													6	174					0	0	0.003080	0	0
OR2G6	391211	broad.mit.edu	37	1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552000													4	66					0	0	0.000248	0	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	69					0	0	0.008291	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448000													5	92					0	0	0.000602	0	0
CDH1	999	broad.mit.edu	37	16	68846165	68846165	+	Splice_Site	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1137_splice	c.e8+1	p.T379_splice	CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				6	65					0	0	0.001984	0	0
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	ENST00000323510.4	-	2	120	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157							nucleic acid binding	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343000													13	15					0	0	0.003163	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGTGCCAGTCTGATTACTACT	0.388000													4	142					0	0	0.000602	0	0
LRP8	7804	broad.mit.edu	37	1	53728131	53728131	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.N417N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537000													5	206					0	0	0.001168	0	0
PCDHB5	0	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A599T(1)		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)			GGGCCAGAACGCCTGGCTGTC	0.716000													20	62					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	ENST00000589042.1	-	326	78747	c.78523C>T	c.(78523-78525)Ccc>Tcc	p.P26175S	TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388000													6	92					0	0	0.001168	0	0
GCNT2	2651	broad.mit.edu	37	6	10586319	10586319	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:10586319T>C	ENST00000265012.4	+	1	341	c.97T>C	c.(97-99)Tat>Cat	p.Y33H	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	34						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388000													4	156					0	0	0.000602	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	68					0	0	0.004672	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622000													17	53					0	0	0.004007	0	0
CHMP4A	29082	broad.mit.edu	37	14	24682652	24682652	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	ENST00000347519.6	-	1	423	c.123G>C	c.(121-123)gaG>gaC	p.E41D	TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A									p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672000													6	50					0	0	0.001168	0	0
FRG1B	0	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													3	86					0	0	0.000602	0	0
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D424V			P29401	TKT_HUMAN	transketolase	424					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGAGGGCCCGTCTTCCCCTGG	0.572000													5	157					0	0	0.001168	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T	rs143937878	by1000genomes	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:95514946C>T	ENST00000432432.2	-	0	711					NR_040113.1													p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308000													4	228					0	0	0.000602	0	0
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577000													3	63					0	0	0.000248	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607000													11	98					0	0	0.008291	0	0
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443000													25	82					0	0	0.003330	0	0
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403000													14	33					0	0	0.002450	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development	cytoplasm		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498000													12	57					0	0	0.001368	0	0
TRIM51HP	0	broad.mit.edu	37	11	55064978	55064978	+	RNA	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:55064978T>C	ENST00000526016.1	-	0	447					NR_038174.2																						GTTCTGGTGGTTTCCATGTTC	0.408000													12	36					0	0	0.001855	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522000													5	166					0	0	0.000602	0	0
PCDHB12	0	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716000													7	234					0	0	0.008291	0	0
VAC14	55697	broad.mit.edu	37	16	70818709	70818709	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502000													8	165					0	0	0.004482	0	0
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	ENST00000360617.3	+	4	545	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547000													6	175					0	0	0.001984	0	0
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468000													35	79					0	0	0.004289	0	0
GNAS	2778	broad.mit.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	105					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			32	91					0	0	0.002096	0	0
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562000													3	33					0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170						centrosome|nucleus	protein binding	p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373000													7	140					0	0	0.001984	0	0
OR4X1	390113	broad.mit.edu	37	11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493000													3	221					0	0	0.000248	0	0
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	ENST00000489301.2	+	4	723	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000371211.2_Missense_Mutation_p.A213V			Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542000													32	80					0	0	0.008361	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	59					0	0	0.004672	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:128503029G>A	ENST00000492758.1	+	1	72	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	0.000248	0	0
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627000													3	9					0	0	0.000248	0	0
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393000													28	97					0	0	0.001786	0	0
GSTM5	2949	broad.mit.edu	37	1	110257972	110257972	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:110257972C>T	ENST00000369813.1	+	5	1459	c.554C>T	c.(553-555)aCg>aTg	p.T185M	GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	gtattgagtacgggcttcatg	0.433000													6	6					0	0	0.001168	0	0
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation|muscle organ development	cytosol	binding	p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572000													3	133					0	0	0.000602	0	0
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642000													3	89					0	0	0.000248	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552000													4	121					1.23904e-05	1.56027e-05	0.000602	1	0
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473000													4	297					0	0	0.000248	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	48					0	0	0.000248	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607000													3	97					0	0	0.004672	0	0
RP11-377D9.3	0	broad.mit.edu	37	12	13155157	13155157	+	RNA	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:13155157T>G	ENST00000543321.1	+	0	31				HTR7P1_ENST00000535469.1_RNA														p.S537A(1)									CACGATTTACTCCACCGCAGT	0.478000													3	13					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	ENST00000368148.3	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468000													12	130					0	0	0.003163	0	0
PSPC1	55269	broad.mit.edu	37	13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433000													7	81					0	0	0.006214	0	0
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662000													5	18					0	0	0.001168	0	0
SLX4	84464	broad.mit.edu	37	16	3658496	3658496	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr16:3658496G>A	ENST00000294008.3	-	2	1110	c.470C>T	c.(469-471)gCa>gTa	p.A157V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	157	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.A157V(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTGTTTTGTGCTGTTTCCCG	0.522000								Direct reversal of damage					6	142					0	0	0.001984	0	0
PSG11	5680	broad.mit.edu	37	19	43519267	43519267	+	Splice_Site	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site|PSG11_ENST00000306322.7_Splice_Site			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473000													12	158					1.08611e-07	1.3935e-07	0.000978	1	0
GFM2	84340	broad.mit.edu	37	5	74056731	74056731	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	48					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338000													6	174					0	0	0.003080	0	0
OR2G6	391211	broad.mit.edu	37	1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552000													4	66					0	0	0.000248	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448000													5	92					0	0	0.000602	0	0
AFF3	3899	broad.mit.edu	37	2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:100210742C>T	ENST00000317233.4	-	14	1616	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443000													4	232					0	0	0.000602	0	0
BRD9	65980	broad.mit.edu	37	5	889273	889273	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr5:889273G>A	ENST00000323510.4	-	2	120	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	BRD9_ENST00000483173.1_Missense_Mutation_p.P104S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000467963.1_Missense_Mutation_p.P157S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157							nucleic acid binding	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343000													13	15					0	0	0.003163	0	0
PRKAA2	5563	broad.mit.edu	37	1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGTGCCAGTCTGATTACTACT	0.388000													4	142					0	0	0.000602	0	0
LRP8	7804	broad.mit.edu	37	1	53728131	53728131	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000347547.2_Silent_p.N417N|LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.N458N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537000													5	206					0	0	0.001168	0	0
PCDHB5	0	broad.mit.edu	37	5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A599T(1)		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)			GGGCCAGAACGCCTGGCTGTC	0.716000													20	62					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:179432336G>A	ENST00000589042.1	-	326	78747	c.78523C>T	c.(78523-78525)Ccc>Tcc	p.P26175S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388000													6	92					0	0	0.001168	0	0
GCNT2	2651	broad.mit.edu	37	6	10586319	10586319	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr6:10586319T>C	ENST00000265012.4	+	1	341	c.97T>C	c.(97-99)Tat>Cat	p.Y33H	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	34						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388000													4	156					0	0	0.000602	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622000													17	53					0	0	0.004007	0	0
CHMP4A	29082	broad.mit.edu	37	14	24682652	24682652	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr14:24682652C>G	ENST00000347519.6	-	1	423	c.123G>C	c.(121-123)gaG>gaC	p.E41D	AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR|TM9SF1_ENST00000530611.1_5'UTR	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A									p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672000													6	50					0	0	0.001168	0	0
CDH1	999	broad.mit.edu	37	16	68846165	68846165	+	Splice_Site	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1137_splice	c.e8+1	p.T379_splice	CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				6	65					0	0	0.001984	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	68					0	0	0.000248	0	0
TKT	7086	broad.mit.edu	37	3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000423525.2_Missense_Mutation_p.D424V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V			P29401	TKT_HUMAN	transketolase	424					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGAGGGCCCGTCTTCCCCTGG	0.572000													5	157					0	0	0.001168	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95514946	95514946	+	RNA	SNP	C	C	T	rs143937878	by1000genomes	TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:95514946C>T	ENST00000432432.2	-	0	711					NR_040113.1													p.R201Q(1)									ACTACTGTACCGTCTCAGCCT	0.308000													4	228					0	0	0.000602	0	0
EMR2	30817	broad.mit.edu	37	19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000346057.1_Missense_Mutation_p.L299R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577000													3	63					0	0	0.000248	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607000													11	98					0	0	0.008291	0	0
FGA	2243	broad.mit.edu	37	4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443000													25	82					0	0	0.003330	0	0
PREX2	80243	broad.mit.edu	37	8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403000													14	33					0	0	0.002450	0	0
PSPC1	55269	broad.mit.edu	37	13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433000													7	81					0	0	0.006214	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development	cytoplasm		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498000													12	57					0	0	0.001368	0	0
TRIM51HP	0	broad.mit.edu	37	11	55064978	55064978	+	RNA	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr11:55064978T>C	ENST00000526016.1	-	0	447					NR_038174.2																						GTTCTGGTGGTTTCCATGTTC	0.408000													12	36					0	0	0.001855	0	0
SERPINF1	5176	broad.mit.edu	37	17	1679918	1679918	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522000													5	166					0	0	0.000602	0	0
PCDHB12	0	broad.mit.edu	37	5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716000													7	234					0	0	0.008291	0	0
VAC14	55697	broad.mit.edu	37	16	70818709	70818709	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502000													8	165					0	0	0.004482	0	0
KLK3	354	broad.mit.edu	37	19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:51361766A>C	ENST00000360617.3	+	4	545	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547000													6	175					0	0	0.001984	0	0
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468000													35	79					0	0	0.004289	0	0
GNAS	2778	broad.mit.edu	37	20	57415470	57415470	+	Silent	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	105					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			32	91					0	0	0.002096	0	0
LRRC43	254050	broad.mit.edu	37	12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562000													3	33					0	0	0.004672	0	0
CEP97	79598	broad.mit.edu	37	3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000327230.4_Missense_Mutation_p.R170S|CEP97_ENST00000494050.1_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170						centrosome|nucleus	protein binding	p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373000													7	140					0	0	0.001984	0	0
OR4X1	390113	broad.mit.edu	37	11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493000													3	221					0	0	0.000248	0	0
OPN5	221391	broad.mit.edu	37	6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr6:47763181C>T	ENST00000489301.2	+	4	723	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000371211.2_Missense_Mutation_p.A213V|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542000													32	80					0	0	0.008361	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:128503029G>A	ENST00000492758.1	+	1	72	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582000											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	0.000248	0	0
GCK	2645	broad.mit.edu	37	7	44185094	44185094	+	Splice_Site	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627000													3	9					0	0	0.000248	0	0
TAOK1	57551	broad.mit.edu	37	17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393000													28	97					0	0	0.001786	0	0
GSTM5	2949	broad.mit.edu	37	1	110257972	110257972	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:110257972C>T	ENST00000369813.1	+	5	1459	c.554C>T	c.(553-555)aCg>aTg	p.T185M	GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	gtattgagtacgggcttcatg	0.433000													6	6					0	0	0.001168	0	0
UNC45B	146862	broad.mit.edu	37	17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation|muscle organ development	cytosol	binding	p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572000													3	133					0	0	0.000602	0	0
COL27A1	85301	broad.mit.edu	37	9	117052373	117052373	+	Silent	SNP	A	A	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642000													3	89					0	0	0.000248	0	0
AGPAT3	56894	broad.mit.edu	37	21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552000													4	121					1.23904e-05	1.56027e-05	0.000602	1	0
TBCD	6904	broad.mit.edu	37	17	80726352	80726352	+	Silent	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Silent_p.P164P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473000													4	297					0	0	0.000248	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL								4	48					0	0	0.000248	0	0
MBOAT7	79143	broad.mit.edu	37	19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607000													3	97					0	0	0.004672	0	0
RP11-377D9.3	0	broad.mit.edu	37	12	13155157	13155157	+	RNA	SNP	T	T	G			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr12:13155157T>G	ENST00000543321.1	+	0	31				HTR7P1_ENST00000535469.1_RNA														p.S537A(1)									CACGATTTACTCCACCGCAGT	0.478000													3	13					0	0	0.000248	0	0
SPTA1	6708	broad.mit.edu	37	1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr1:158637764T>C	ENST00000368148.3	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468000													12	130					0	0	0.003163	0	0
CELSR3	1951	broad.mit.edu	37	3	48688391	48688391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:48688391C>A	ENST00000544264.1	-	15	6584	c.6304G>T	c.(6304-6306)Gcc>Tcc	p.A2102S	CELSR3_ENST00000164024.4_Missense_Mutation_p.A2102S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2102	Laminin EGF-like.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCAAGGGCTCCTGGGCGA	0.677000													6	77					3.59834e-05	4.44885e-05	0.001168	1	0
EOMES	8320	broad.mit.edu	37	3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gcg>gc	p.AA128del	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	128	Ala-rich.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778													2	4	---	---	---	---					
PBX2P1	0	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													2	4	---	---	---	---					
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)del	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411													31	88	---	---	---	---					
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)del	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729													3	5	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	167	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													3	4	---	---	---	---					
UBR2	23304	broad.mit.edu	37	6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)del	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411													31	88	---	---	---	---					
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)ttfs	p.I370fs	PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353													7	167	---	---	---	---					
RP11-464F9.1	0	broad.mit.edu	37	10	75486922	75486923	+	RNA	INS	-	-	A	rs11387949		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr10:75486922_75486923insA	ENST00000399449.3	-	0	427				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							GCTAACTTAGTAAAGTATAAGA	0.386													4	4	---	---	---	---					
