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
CPXCR1	53336	broad.mit.edu	37	X	88009303	88009303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:88009303C>G	ENST00000276127.4	+	3	1147	c.888C>G	c.(886-888)tgC>tgG	p.C296W	CPXCR1_ENST00000373111.1_Missense_Mutation_p.C296W	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	296						intracellular	zinc ion binding	p.C296W(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AACATTCATGCAGCTCTTCTG	0.294000													5	18					0	0	0.001984	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197321	9197321	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:9197321A>T	ENST00000382496.5	-	10	1692	c.1027T>A	c.(1027-1029)Tcg>Acg	p.S343T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.S343T(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCCAGGCCGAGCGCGAGTTT	0.587000													17	133					0	0	0.006122	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320796	27320796	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:27320796C>A	ENST00000407991.1	-	6	1772	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	CHRNA2_ENST00000240132.2_Missense_Mutation_p.E373D|CHRNA2_ENST00000520933.2_Missense_Mutation_p.E388D	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	388						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E388D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GGTGGCAGAGCTCCACGGGTG	0.677000													13	63					9.31168e-06	1.0915e-05	0.001855	1	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420354	69420354	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:69420354T>A	ENST00000357336.3	+	13	1525	c.1244T>A	c.(1243-1245)tTa>tAa	p.L415*		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	415								p.L415*(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GCTGGCAGATTAACCCAACAA	0.343000													9	153					0	0	0.002450	0	0
MYH4	4622	broad.mit.edu	37	17	10356559	10356559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:10356559G>T	ENST00000255381.2	-	24	3131	c.3021C>A	c.(3019-3021)caC>caA	p.H1007Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1007					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.H1007Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTCTGCTGGTGGGCCTCCT	0.493000													93	267					5.00475e-40	9.16387e-40	0.003610	1	0
FCGR2A	2212	broad.mit.edu	37	1	161487775	161487775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:161487775G>T	ENST00000271450.6	+	7	829	c.791G>T	c.(790-792)cGt>cTt	p.R264L	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_5'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.R263L	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	264						integral to membrane|plasma membrane	IgG binding|receptor activity	p.R263L(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ccacctggacgtcaaatgatt	0.433000													21	54					5.26018e-13	7.86804e-13	0.001882	1	0
AGAP7	653268	broad.mit.edu	37	10	51464849	51464849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:51464849G>T	ENST00000374095.5	-	7	1732	c.1607C>A	c.(1606-1608)aCg>aAg	p.T536K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	536	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T536K(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTCTTCCCTCGTGGACTTTTC	0.552000													100	141					1.07597e-44	1.98382e-44	0.003610	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24959146	24959146	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:24959146C>A	ENST00000396432.2	-	3	730		c.e3+1			NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTCTCTTACCTTATATGAA	0.368000													13	33					5.50884e-06	6.48601e-06	0.001368	1	0
GABPB2	126626	broad.mit.edu	37	1	151079676	151079676	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:151079676A>C	ENST00000368918.3	+	7	1231	c.900A>C	c.(898-900)gtA>gtC	p.V300V	GABPB2_ENST00000368916.1_Silent_p.V262V|GABPB2_ENST00000368917.1_Silent_p.V262V|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	300					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	p.V300V(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CATTTATTGTAACTGTGCAAG	0.413000													11	47					0	0	0.001855	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999000	72999000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:72999000G>T	ENST00000322038.5	+	2	2087	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	TSHZ1_ENST00000580243.1_Missense_Mutation_p.K546N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	546						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K501N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAGCCCCAAGGGAGGGCTGG	0.587000													12	133					7.03913e-09	9.11653e-09	0.001368	1	0
C1orf27	54953	broad.mit.edu	37	1	186367533	186367533	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:186367533A>G	ENST00000367470.3	+	9	1036	c.800A>G	c.(799-801)tAt>tGt	p.Y267C	C1orf27_ENST00000419367.3_Missense_Mutation_p.Y258C|C1orf27_ENST00000287859.6_Missense_Mutation_p.Y290C|C1orf27_ENST00000432021.3_Missense_Mutation_p.Y267C	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	290						integral to membrane	oxidoreductase activity|zinc ion binding	p.Y290C(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGCAGAGCTTATATCCACAGC	0.398000													53	101					0	0	0.003610	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962798	55962798	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:55962798C>A	ENST00000577830.1	-	2	541	c.128G>T	c.(127-129)cGc>cTc	p.R43L	CUEDC1_ENST00000407144.2_Missense_Mutation_p.R43L|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R43L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	43								p.R43L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CTCCAGGCGGCGCACCTGGCG	0.701000													30	37					3.80469e-20	6.49612e-20	0.009535	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706670	33706670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:33706670C>A	ENST00000269187.5	-	2	514	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.D101Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	101	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D101Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						tgctcgtggtctgagtgatgg	0.418000													7	42					8.12818e-05	9.10562e-05	0.001984	1	0
LRP4	4038	broad.mit.edu	37	11	46905469	46905469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:46905469C>A	ENST00000378623.1	-	19	2807	c.2565G>T	c.(2563-2565)tgG>tgT	p.W855C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	855					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.W855C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAAGGTTCTCCCAGATGAGTA	0.517000													19	90					1.55469e-16	2.57178e-16	0.003330	1	0
FMO4	2329	broad.mit.edu	37	1	171300844	171300844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:171300844G>T	ENST00000367749.3	+	6	880	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	184					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.G184C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGCTTTCAGGGCAAACGCGT	0.458000													31	172					1.13719e-10	1.57663e-10	0.008361	1	0
GPATCH1	55094	broad.mit.edu	37	19	33602647	33602647	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:33602647C>T	ENST00000170564.2	+	12	1917	c.1603C>T	c.(1603-1605)Ctg>Ttg	p.L535L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	535						catalytic step 2 spliceosome	nucleic acid binding	p.L535L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGAACGCTGTCTGGACCCCAG	0.582000													17	106					0	0	0.008871	0	0
KIAA1009	22832	broad.mit.edu	37	6	84930830	84930830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:84930830C>T	ENST00000403245.3	-	3	231	c.117G>A	c.(115-117)atG>atA	p.M39I	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	39					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.M39I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTTCTTCTTCATCTCTTTTT	0.303000													20	120					0	0	0.001882	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744130	31744130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr21:31744130G>T	ENST00000399889.2	-	1	427	c.402C>A	c.(400-402)agC>agA	p.S134R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	134						intermediate filament		p.S134R(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGAAGCCACAGCTTCCATAAC	0.577000													14	33					1.02788e-11	1.47515e-11	0.004990	1	0
KHDC3L	154288	broad.mit.edu	37	6	74072850	74072850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:74072850G>T	ENST00000370367.3	+	2	255	c.202G>T	c.(202-204)Ggt>Tgt	p.G68C		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G68C(1)									GCACGTCCAGGGTATGTCCCA	0.597000													17	79					2.5808e-16	4.22964e-16	0.006122	1	0
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:57137380C>G	ENST00000263314.2	+	12	1138	c.1104C>G	c.(1102-1104)atC>atG	p.I368M		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547000													5	15					0	0	0.000602	0	0
C9orf171	389799	broad.mit.edu	37	9	135374960	135374960	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:135374960C>T	ENST00000343036.2	+	4	653	c.605C>T	c.(604-606)cCa>cTa	p.P202L	C9orf171_ENST00000393215.3_Missense_Mutation_p.P166L|C9orf171_ENST00000393216.2_Missense_Mutation_p.P166L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	202								p.P202L(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCTCTCCCTCCAAACATGACA	0.597000													18	55					0	0	0.001882	0	0
IFT88	8100	broad.mit.edu	37	13	21217673	21217673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr13:21217673G>T	ENST00000382778.4	+	20	2907	c.1789G>T	c.(1789-1791)Gtt>Ttt	p.V597F	IFT88_ENST00000537103.1_Missense_Mutation_p.V569F|IFT88_ENST00000351808.5_Missense_Mutation_p.V588F|IFT88_ENST00000319980.6_Missense_Mutation_p.V597F			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	597					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.V597F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CGATCCTCAAGTTTTATCTAA	0.353000													15	40					0.000219431	0.000241238	0.002450	1	0
PGK2	5232	broad.mit.edu	37	6	49754263	49754263	+	Missense_Mutation	SNP	C	C	A	rs137962561		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:49754263C>A	ENST00000304801.3	-	1	790	c.638G>T	c.(637-639)gGt>gTt	p.G213V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	213					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.G213V(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGGCTCCACCAAGTATAGC	0.418000													12	130					0.000978159	0.00105355	0.000978	1	0
SPECC1L	23384	broad.mit.edu	37	22	24718090	24718090	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:24718090G>T	ENST00000314328.9	+	5	1427	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	SPECC1L_ENST00000437398.1_Missense_Mutation_p.R381L|SPECC1L_ENST00000416735.1_Intron|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.R381L|SPECC1L_ENST00000541492.1_Missense_Mutation_p.R381L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	381					cell cycle|cell division			p.R381L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAGCGCTCCCGGAAGGGGAGC	0.577000													5	37					0.000602214	0.000651275	0.000602	1	0
TMPO	7112	broad.mit.edu	37	12	98938261	98938261	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:98938261T>A	ENST00000556029.1	+	6	1181	c.825T>A	c.(823-825)atT>atA	p.I275I	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Silent_p.I235I	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	275	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.I275I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCCAGTAATTTCAGAGAGTA	0.294000													7	45					0	0	0.003080	0	0
CES2	8824	broad.mit.edu	37	16	66969550	66969550	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:66969550C>A	ENST00000317091.4	+	1	1188	c.204C>A	c.(202-204)caC>caA	p.H68Q	CES2_ENST00000417689.1_Missense_Mutation_p.H68Q	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	4					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.H68Q(1)		breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		TGCGGCTGCACAGACTTCGTG	0.697000													32	114					9.78485e-24	1.74354e-23	0.002836	1	0
BTN3A2	11118	broad.mit.edu	37	6	26373142	26373142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:26373142G>T	ENST00000356386.2	+	6	921	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A245S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A203S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A245S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A245S|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A222S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	245						integral to membrane		p.A245S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTTCAGGAGCGCCCAGCCCTG	0.612000													77	76					1.7488e-33	3.16932e-33	0.003610	1	0
PRSS55	203074	broad.mit.edu	37	8	10383193	10383193	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:10383193G>A	ENST00000328655.3	+	1	138	c.98G>A	c.(97-99)gGc>gAc	p.G33D	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G33D	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	33					proteolysis	integral to membrane	serine-type endopeptidase activity	p.G33D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GCTATCCTAGGCAGGGCTAGG	0.652000													8	19					0	0	0.004482	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381998	41381998	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:41381998C>A	ENST00000377801.3	-	2	816	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V248L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	248					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.V248L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGTCAGCACCACCTGAGAT	0.483000													32	117					9.65963e-10	1.28876e-09	0.003271	1	0
CFB	629	broad.mit.edu	37	6	31911043	31911043	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:31911043A>C	ENST00000556679.1	+	8	998	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	C2_ENST00000452323.2_Missense_Mutation_p.M254L|C2_ENST00000299367.5_Missense_Mutation_p.M468L|CFB_ENST00000456570.1_Missense_Mutation_p.M315L|C2_ENST00000442278.2_Missense_Mutation_p.M336L|CFB_ENST00000477310.1_Missense_Mutation_p.M239L|C2_ENST00000469372.1_Missense_Mutation_p.M222L			P00751	CFAB_HUMAN	complement factor B	483	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.M468L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGTGGGGAACATGTCAGCAAA	0.572000													12	55					0	0	0.001368	0	0
ZNF681	148213	broad.mit.edu	37	19	23927160	23927160	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:23927160C>T	ENST00000402377.3	-	4	1333	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E329K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E398K(1)|p.E329K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTGCCACATTCTTCACATTTG	0.413000													17	68					0	0	0.007413	0	0
OR5D16	390144	broad.mit.edu	37	11	55606872	55606872	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:55606872C>A	ENST00000378396.1	+	1	645	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I215I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CACTACTCATCATTCTGACAT	0.463000													33	100					1.74807e-11	2.48854e-11	0.002096	1	0
MGAT5B	146664	broad.mit.edu	37	17	74900403	74900403	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:74900403T>C	ENST00000569840.2	+	6	1163	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.F197L|MGAT5B_ENST00000428789.2_Missense_Mutation_p.F208L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	197						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.F197L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTGCTCCTTCCTCATCTA	0.667000													4	18					0	0	0.009096	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471176	123471176	+	Splice_Site	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:123471176C>T	ENST00000529750.1	+	7	868	c.540_splice	c.e7-1	p.H181_splice	GRAMD1B_ENST00000456860.2_Splice_Site_p.H188_splice|GRAMD1B_ENST00000322282.7_Splice_Site_p.H181_splice	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	181						integral to membrane		p.H181Y(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCAATCTAGCACTTCTTCAC	0.408000													8	38					0	0	0.004482	0	0
MST1R	4486	broad.mit.edu	37	3	49935561	49935561	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:49935561C>A	ENST00000296474.3	-	5	1830	c.1803G>T	c.(1801-1803)ctG>ctT	p.L601L	MST1R_ENST00000344206.4_Silent_p.L601L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	601	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.L601L(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTCAGGCACCAGACCAGAAG	0.582000													17	45					3.99206e-14	6.19819e-14	0.007413	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132201	59132201	+	Missense_Mutation	SNP	G	G	T	rs145916059	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:59132201G>T	ENST00000313940.2	+	1	317	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q90H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGAACAGCAAACTATCA	0.418000													35	177					4.34311e-12	6.28389e-12	0.003271	1	0
MAP7D3	79649	broad.mit.edu	37	X	135301625	135301625	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:135301625G>A	ENST00000316077.9	-	18	2815	c.2595C>T	c.(2593-2595)gaC>gaT	p.D865D	MAP7D3_ENST00000370661.1_Silent_p.D830D|MAP7D3_ENST00000370663.5_Silent_p.D847D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	865						cytoplasm|spindle		p.D1162D(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGGCAAGATGTCATGGAATC	0.388000													7	53					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152443811	152443811	+	Splice_Site	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:152443811C>T	ENST00000367255.5	-	146	26755	c.26153_splice	c.e146-1	p.R8718_splice	SYNE1_ENST00000354674.4_Splice_Site_p.R896_splice|SYNE1_ENST00000448038.1_Splice_Site_p.R8670_splice|SYNE1_ENST00000539504.1_Splice_Site_p.R873_splice|SYNE1_ENST00000265368.4_Splice_Site_p.R8718_splice|SYNE1_ENST00000356820.4_Splice_Site_p.R3242_splice|ESR1_ENST00000544394.1_Intron|SYNE1_ENST00000423061.1_Splice_Site_p.R8670_splice|SYNE1_ENST00000341594.5_Splice_Site_p.R8330_splice|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8718	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R8718R(2)|p.R8670R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTTGTGGACCTGAGAGAAG	0.562000										HNSCC(10;0.0054)			13	95					0	0	0.001855	0	0
KLC2	64837	broad.mit.edu	37	11	66033336	66033336	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:66033336C>T	ENST00000394065.2	+	11	2056	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	KLC2_ENST00000394067.2_Silent_p.P485P|KLC2_ENST00000421552.1_Silent_p.P408P|KLC2_ENST00000316924.5_Silent_p.P485P|KLC2_ENST00000417856.1_Silent_p.P485P|KLC2_ENST00000394066.2_Silent_p.P408P|KLC2_ENST00000394078.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	485					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.P485P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTTTGGACCCCGCAAGCCAGA	0.672000													6	50					0	0	0.003080	0	0
PEG3	5178	broad.mit.edu	37	19	57328654	57328654	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:57328654T>C	ENST00000326441.9	-	10	1519	c.1156A>G	c.(1156-1158)Aga>Gga	p.R386G	PEG3_ENST00000598410.1_Missense_Mutation_p.R262G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R386G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R260G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	386					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R386G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAAGAACTCTCTTTCTGGAA	0.453000													31	90					0	0	0.008361	0	0
AFMID	125061	broad.mit.edu	37	17	76203015	76203015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:76203015G>T	ENST00000409257.5	+	11	963	c.909G>T	c.(907-909)caG>caT	p.Q303H	AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.Q308H|AFMID_ENST00000591952.1_Missense_Mutation_p.V60L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	303						cytosol|nucleus	arylformamidase activity	p.Q308H(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAATCTTCCAGTAGTTCTGAC	0.478000													35	122					3.03874e-20	5.20507e-20	0.003271	1	0
NLRP7	199713	broad.mit.edu	37	19	55445881	55445881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:55445881G>T	ENST00000588756.1	-	9	2933	c.2447C>A	c.(2446-2448)cCa>cAa	p.P816Q	NLRP7_ENST00000592784.1_Missense_Mutation_p.P816Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.P816Q|NLRP7_ENST00000446217.1_Missense_Mutation_p.P844Q|NLRP7_ENST00000448121.2_Missense_Mutation_p.P788Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.P788Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.P816Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	816							ATP binding	p.P788Q(2)|p.P816Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAAGTGTTTTGGGCGTGTCAT	0.512000													27	80					6.32553e-13	9.40856e-13	0.004656	1	0
SH2D3C	10044	broad.mit.edu	37	9	130536632	130536632	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:130536632T>A	ENST00000314830.8	-	2	265	c.152A>T	c.(151-153)gAa>gTa	p.E51V		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	51					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.E51V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCGTGGCTTCAAAGGTGTC	0.592000													16	49					0	0	0.004990	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364896	22364896	+	Missense_Mutation	SNP	G	G	T	rs138598101		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:22364896G>T	ENST00000263160.3	+	3	880	c.443G>T	c.(442-444)cGg>cTg	p.R148L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	148					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.R148L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCGCGTCTCGGCTGGCAGCC	0.597000													26	87					3.28513e-13	4.95569e-13	0.003954	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50190676	50190676	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:50190676G>A	ENST00000335999.6	-	8	1168	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	319	Pro-rich.							p.R323C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AACTGTCTGCGGGCCAGGGCA	0.652000													7	11					0	0	0.003080	0	0
LONRF1	91694	broad.mit.edu	37	8	12586807	12586807	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:12586807T>C	ENST00000398246.3	-	9	1792	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V	LONRF1_ENST00000533751.1_Missense_Mutation_p.M218V|LONRF1_ENST00000525024.1_Start_Codon_SNP_p.M1V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	575	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.M575V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGGTAGGCCATAGTGCAAACA	0.368000													12	44					0	0	0.001855	0	0
CCDC141	285025	broad.mit.edu	37	2	179701637	179701637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:179701637C>A	ENST00000420890.2	-	23	4426	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E862*|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	862							protein binding	p.E1437*(1)|p.E862*(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTGTAGGCTCTGGAAATCCT	0.428000													15	55					2.23348e-06	2.66512e-06	0.004007	1	0
MYH8	4626	broad.mit.edu	37	17	10299915	10299915	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:10299915G>A	ENST00000403437.2	-	32	4577	c.4483C>T	c.(4483-4485)Ctg>Ttg	p.L1495L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1495					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.L1495L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTGATCCAGGGATTCCTCA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	37					0	0	0.006122	0	0
ANO1	55107	broad.mit.edu	37	11	69933978	69933978	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:69933978C>A	ENST00000355303.5	+	2	534	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	ANO1_ENST00000316296.5_Silent_p.R49R|ANO1_ENST00000538023.1_Silent_p.R77R|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	77					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.R77R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTCGGGCAACCGGACCCTGGT	0.667000													5	24					0.000602214	0.000651275	0.000602	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736646	140736646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:140736646C>G	ENST00000571252.1	+	1	1879	c.1879C>G	c.(1879-1881)Cgc>Ggc	p.R627G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGAGGTGCGCACCGCACG	0.632000													13	23					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9543572	9543572	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:9543572C>T	ENST00000378429.3	-	7	2128	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S	PAK7_ENST00000378423.1_Missense_Mutation_p.G528S|PAK7_ENST00000353224.5_Missense_Mutation_p.G528S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	528	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G528S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGGCACCACCTTCTAGAAAC	0.488000													35	138					0	0	0.005524	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884010	19884010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:19884010G>T	ENST00000300571.2	-	2	349	c.158C>A	c.(157-159)gCc>gAc	p.A53D	GPRC5B_ENST00000537135.1_Missense_Mutation_p.A79D|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A53D|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A53D|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A53D	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	53								p.A53D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCCAGATGGCGTCCAGGTC	0.647000													17	23					3.57192e-18	5.96444e-18	0.006122	1	0
ITPKA	3706	broad.mit.edu	37	15	41794614	41794614	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:41794614C>T	ENST00000260386.5	+	5	1076	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	341					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.S341S(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGGACGGCTCCTGCAGCACCG	0.612000													14	37					0	0	0.003163	0	0
DTWD1	56986	broad.mit.edu	37	15	49917565	49917565	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:49917565C>T	ENST00000251250.6	+	3	408	c.201C>T	c.(199-201)ttC>ttT	p.F67F	DTWD1_ENST00000403028.3_Silent_p.F67F|DTWD1_ENST00000558653.1_Silent_p.F67F|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000329873.5_Silent_p.F67F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	67								p.F67F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CCAGAATGTTCTACTGCTATA	0.338000													6	31					0	0	0.001168	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555761	145555761	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:145555761G>T	ENST00000355594.4	+	2	196	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ANKRD35_ENST00000544626.1_Missense_Mutation_p.A37S	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	37								p.A37S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGACGCGTGGCTGCCCTGGC	0.602000													24	47					3.85864e-22	6.71783e-22	0.002780	1	0
MYOZ2	51778	broad.mit.edu	37	4	120085547	120085547	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:120085547C>G	ENST00000307128.5	+	5	771	c.558C>G	c.(556-558)aaC>aaG	p.N186K		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	186				N -> T (in Ref. 1; AAG13932).			protein phosphatase 2B binding	p.N186K(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGAGCTTTAACAGGTAATTCA	0.393000													9	23					0	0	0.008291	0	0
FSCB	84075	broad.mit.edu	37	14	44974010	44974010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:44974010C>A	ENST00000340446.4	-	1	2472	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	727						cilium		p.E727D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGGAAACTCCTCAGTCAGAA	0.507000													8	51					0.00307968	0.00328375	0.003080	1	0
RXFP1	59350	broad.mit.edu	37	4	159568063	159568063	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:159568063G>C	ENST00000307765.5	+	16	1717	c.1466G>C	c.(1465-1467)gGa>gCa	p.G489A	RXFP1_ENST00000470033.1_Missense_Mutation_p.G456A|RXFP1_ENST00000448688.2_Missense_Mutation_p.G384A|RXFP1_ENST00000343542.5_Missense_Mutation_p.G441A|RXFP1_ENST00000460056.2_Missense_Mutation_p.G408A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	489						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.G489A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGCTTGTAGGATCTTTGGCC	0.388000													18	66					0	0	0.007413	0	0
RIOK2	55781	broad.mit.edu	37	5	96503332	96503332	+	Silent	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:96503332A>G	ENST00000283109.3	-	8	1304	c.1236T>C	c.(1234-1236)tcT>tcC	p.S412S	RIOK2_ENST00000508447.1_Silent_p.S412S|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	412	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.S412S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATTCAGTTACAGAGTTGTTTT	0.403000													26	74					0	0	0.004656	0	0
LTBP1	4052	broad.mit.edu	37	2	33572548	33572548	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:33572548C>T	ENST00000404816.2	+	26	4324	c.3971C>T	c.(3970-3972)aCt>aTt	p.T1324I	LTBP1_ENST00000354476.3_Missense_Mutation_p.T1325I|LTBP1_ENST00000390003.4_Missense_Mutation_p.T999I|LTBP1_ENST00000404525.1_Missense_Mutation_p.T945I|LTBP1_ENST00000402934.1_Missense_Mutation_p.T945I|LTBP1_ENST00000407925.1_Missense_Mutation_p.T998I|LTBP1_ENST00000272273.5_Missense_Mutation_p.T222I|LTBP1_ENST00000418533.2_Missense_Mutation_p.T956I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1324	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.T1325I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCATGACTGGGCAGTGC	0.567000													10	84					0	0	0.000978	0	0
CD226	10666	broad.mit.edu	37	18	67563049	67563049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:67563049G>T	ENST00000280200.4	-	4	883	c.615C>A	c.(613-615)agC>agA	p.S205R	CD226_ENST00000581982.1_Missense_Mutation_p.S50R|CD226_ENST00000577287.1_Missense_Mutation_p.S50R|CD226_ENST00000582621.1_Missense_Mutation_p.S205R	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	205	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.S205_V206>RI(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGACGATGACGCTCCACCTTC	0.512000													25	155					2.79863e-10	3.81045e-10	0.004656	1	0
LAMA2	3908	broad.mit.edu	37	6	129714272	129714272	+	Silent	SNP	C	C	A	rs138695453	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:129714272C>A	ENST00000421865.2	+	37	5366	c.5317C>A	c.(5317-5319)Cgg>Agg	p.R1773R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1773	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1773R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGGATCTCCGGGAAAAACT	0.463000													8	43					1.06961e-07	1.33954e-07	0.003080	1	0
MN1	4330	broad.mit.edu	37	22	28193500	28193500	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:28193500C>A	ENST00000302326.4	-	1	3986	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1011							binding	p.G1011V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCCCCCTTCCCCCAGGATGG	0.687000			T	ETV6	"""AML, meningioma"""								5	27					0.000602214	0.000651275	0.000602	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77317919	77317919	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:77317919C>T	ENST00000282849.5	-	23	4018	c.3600G>A	c.(3598-3600)caG>caA	p.Q1200Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1200	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1200Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACACCATGCTGAGGAACTA	0.448000													12	111					0	0	0.001368	0	0
SCN2A	6326	broad.mit.edu	37	2	166179948	166179948	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:166179948G>T	ENST00000357398.3	+	12	2244	c.1954G>T	c.(1954-1956)Ggt>Tgt	p.G652C	SCN2A_ENST00000283256.6_Missense_Mutation_p.G652C|SCN2A_ENST00000375427.2_Missense_Mutation_p.G652C|SCN2A_ENST00000375437.2_Missense_Mutation_p.G652C			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	652					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G652C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGACTGCAATGGTGTGGTCTC	0.587000													6	21					1.12685e-05	1.31219e-05	0.004482	1	0
PLXNA3	55558	broad.mit.edu	37	X	153689939	153689939	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:153689939G>T	ENST00000369682.3	+	3	1270	c.1095G>T	c.(1093-1095)ctG>ctT	p.L365L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	365	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.L365L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTGGCTCTGCCCTGGCTGC	0.637000													163	55					1.75936e-65	3.2665e-65	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237777447	237777447	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:237777447C>A	ENST00000366574.2	+	37	5336	c.5019C>A	c.(5017-5019)gcC>gcA	p.A1673A	RYR2_ENST00000360064.6_Silent_p.A1671A|RYR2_ENST00000542537.1_Silent_p.A1657A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1673	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1671A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGGGTGGCCCATGCCCTGT	0.527000													15	50					1.5739e-10	2.17075e-10	0.004007	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176338	142176338	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:142176338C>A	ENST00000390369.2	-	0	337																											GGCTAAGCTGCTGGCACAGAG	0.562000													12	52					3.07112e-06	3.64824e-06	0.000978	1	0
FFAR3	2865	broad.mit.edu	37	19	35850707	35850707	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:35850707C>G	ENST00000327809.4	+	2	1116	c.915C>G	c.(913-915)agC>agG	p.S305R	FFAR3_ENST00000594310.1_Missense_Mutation_p.S305R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	305						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.S305R(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AGCAGGAGAGCAGCATGGAGC	0.587000													8	45					0	0	0.004007	0	0
AP1M2	10053	broad.mit.edu	37	19	10692296	10692296	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:10692296T>C	ENST00000590923.1	-	5	496	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	AP1M2_ENST00000250244.6_Missense_Mutation_p.Q138R			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	138					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.Q138R(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTTGTTGCTCTGCTGAGTGAT	0.607000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	0.001168	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973916	120973916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:120973916T>C	ENST00000273666.6	+	16	1887	c.1616T>C	c.(1615-1617)aTa>aCa	p.I539T	STXBP5L_ENST00000497029.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I539T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	539					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.I539T(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATATGTCATAATTTATAAA	0.313000													6	51					0	0	0.001984	0	0
SETX	23064	broad.mit.edu	37	9	135173664	135173664	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:135173664G>C	ENST00000372169.2	-	13	5766	c.5584C>G	c.(5584-5586)Cag>Gag	p.Q1862E	SETX_ENST00000393220.1_Missense_Mutation_p.Q1862E|SETX_ENST00000224140.5_Missense_Mutation_p.Q1862E			Q7Z333	SETX_HUMAN	senataxin	1862					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.Q1862E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTTGAGTCTGGATGGAAAGG	0.383000													14	54					0	0	0.002450	0	0
PKD1L2	114780	broad.mit.edu	37	16	81171057	81171057	+	RNA	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:81171057G>A	ENST00000525539.1	-	0	5703				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCAACAGATGTCCTGGCAGC	0.597000													3	11					0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158614124	158614124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:158614124C>A	ENST00000368148.3	-	30	4437	c.4257G>T	c.(4255-4257)agG>agT	p.R1419S	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1419S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1419					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.R1419S(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)					TGTCATCTGACCTCAGGGAAT	0.453000													20	93					1.96292e-10	2.68637e-10	0.010504	1	0
ZFHX3	463	broad.mit.edu	37	16	72829024	72829024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:72829024C>A	ENST00000268489.5	-	9	8229	c.7557G>T	c.(7555-7557)caG>caT	p.Q2519H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1605H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2519					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q2519H(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTTGCGAGCTGTTGAGGAG	0.587000													21	90					2.39556e-15	3.85468e-15	0.002780	1	0
OR10A5	144124	broad.mit.edu	37	11	6866978	6866978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:6866978C>T	ENST00000299454.4	+	1	96	c.65C>T	c.(64-66)aCt>aTt	p.T22I	OR10A5_ENST00000379831.2_Missense_Mutation_p.T26I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTACCTACTGAAATACAG	0.433000													69	232					0	0	0.003610	0	0
ZNF132	7691	broad.mit.edu	37	19	58945489	58945489	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:58945489T>C	ENST00000254166.3	-	3	1722	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N441S(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAGTTATTGTTAAAAGCTCT	0.478000													33	105					0	0	0.002445	0	0
RBP3	5949	broad.mit.edu	37	10	48389678	48389678	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:48389678C>A	ENST00000224600.4	-	1	1313	c.1200G>T	c.(1198-1200)gcG>gcT	p.A400A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A400A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCGTCGGGCGCGGGCCAAG	0.647000													13	38					6.81908e-15	1.08087e-14	0.002450	1	0
MOS	4342	broad.mit.edu	37	8	57025763	57025763	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:57025763G>T	ENST00000311923.1	-	1	778	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	260	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A260D(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			ATAAATGTCGGCTTTAGGCGT	0.582000													11	68					2.80697e-09	3.67119e-09	0.000978	1	0
HAPLN4	404037	broad.mit.edu	37	19	19371853	19371853	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:19371853T>A	ENST00000291481.7	-	3	316	c.253A>T	c.(253-255)Aag>Tag	p.K85*	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	85	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.K85*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TTTGTCCACTTGAGCCGGACG	0.677000													11	38					0	0	0.002450	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504561	66504561	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:66504561T>C	ENST00000360242.5	+	2	678	c.561T>C	c.(559-561)taT>taC	p.Y187Y	CCDC102B_ENST00000584156.1_Silent_p.Y187Y|CCDC102B_ENST00000319445.6_Silent_p.Y187Y|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.Y187Y	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	187								p.Y187Y(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGAGAGTATTTGGTAAAAA	0.358000													67	133					0	0	0.003610	0	0
CD86	942	broad.mit.edu	37	3	121822487	121822487	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:121822487C>A	ENST00000330540.2	+	3	309	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.L59M	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	65	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.L65M(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAACTTGGTTCTGAATGAGGT	0.433000													33	74					3.90053e-15	6.23849e-15	0.002445	1	0
ANK1	286	broad.mit.edu	37	8	41571699	41571699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:41571699C>G	ENST00000396942.1	-	16	1858	c.1775G>C	c.(1774-1776)gGc>gCc	p.G592A	ANK1_ENST00000289734.7_Missense_Mutation_p.G592A|ANK1_ENST00000265709.8_Missense_Mutation_p.G625A|ANK1_ENST00000396945.1_Missense_Mutation_p.G592A|ANK1_ENST00000352337.4_Missense_Mutation_p.G592A|ANK1_ENST00000379758.2_Missense_Mutation_p.G592A|ANK1_ENST00000347528.4_Missense_Mutation_p.G592A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	592	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G592A(1)|p.G625A(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGGAGCCGCCCCGGGGAAG	0.667000													7	33					0	0	0.004482	0	0
SSPO	23145	broad.mit.edu	37	7	149485870	149485870	+	RNA	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:149485870G>T	ENST00000378016.2	+	0	4089							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATTGTGGGGGTGACGGTG	0.627000													17	37					2.35188e-11	3.33026e-11	0.006122	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599263	136599263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:136599263G>T	ENST00000531224.1	-	4	1008	c.756C>A	c.(754-756)caC>caA	p.H252Q	BCLAF1_ENST00000527536.1_Missense_Mutation_p.H252Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H250Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H250Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H252Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H250Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	252					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.H252Q(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTTGCAGAGTGAACTGTAC	0.443000													11	129					0.000151284	0.000167708	0.001855	1	0
DNAH11	8701	broad.mit.edu	37	7	21840846	21840846	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:21840846A>G	ENST00000328843.6	+	63	10170	c.10139A>G	c.(10138-10140)aAc>aGc	p.N3380S	DNAH11_ENST00000409508.3_Missense_Mutation_p.N3373S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3380	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3380S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCAAACCAACAAAACCATC	0.408000									Kartagener syndrome				3	29					0	0	0.004672	0	0
RBFA	79863	broad.mit.edu	37	18	77805852	77805852	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:77805852G>T	ENST00000262197.7	+	6	674	c.644G>T	c.(643-645)cGc>cTc	p.R215L	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000306735.5_Silent_p.A243A	NM_001171967.1	NP_001165438.1	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	0					rRNA processing	mitochondrion		p.A243A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATCATGAGGCGCTCAACAAGC	0.572000													49	96					8.04919e-23	1.41527e-22	0.003610	1	0
RIMS2	9699	broad.mit.edu	37	8	105105698	105105698	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:105105698G>T	ENST00000436393.2	+	21	2962		c.e21-1		RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTGTTAACAGTATCGATCAG	0.383000										HNSCC(12;0.0054)			64	142					1.08241e-25	1.94175e-25	0.003610	1	0
CPNE7	27132	broad.mit.edu	37	16	89661869	89661869	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:89661869C>G	ENST00000268720.5	+	16	1752	c.1622C>G	c.(1621-1623)tCc>tGc	p.S541C	CPNE7_ENST00000319518.8_Missense_Mutation_p.S466C|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	541	VWFA.				lipid metabolic process		transporter activity	p.S541C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CTGCCCATGTCCATCATCATC	0.667000													9	34					0	0	0.006214	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43823527	43823527	+	Splice_Site	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:43823527T>C	ENST00000389420.3	-	24	3381	c.3381_splice	c.e24-1	p.S1128_splice	ADAMTS20_ENST00000553158.1_Splice_Site_p.S1128_splice|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1128	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding	p.S1128G(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTACACAGCTCTGTTCAGAA	0.348000													2	7					0	0	0.004672	0	0
LILRA3	11026	broad.mit.edu	37	19	54802512	54802512	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:54802512G>T	ENST00000391745.1	-	9	1296	c.980C>A	c.(979-981)cCc>cAc	p.P327H	LILRA3_ENST00000391744.3_Missense_Mutation_p.P246H|LILRA3_ENST00000251390.3_Missense_Mutation_p.P310H					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.P310H(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGTCGCTGGGGGCCGACCA	0.672000													8	23					1.12685e-05	1.31219e-05	0.004482	1	0
CHRM3	1131	broad.mit.edu	37	1	240072216	240072216	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:240072216G>T	ENST00000255380.4	+	5	2244	c.1465G>T	c.(1465-1467)Gcg>Tcg	p.A489S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	489					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A489S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGAGAAGAAAGCGGCCCAGAC	0.507000													37	88					3.6622e-26	6.59196e-26	0.003755	1	0
NDUFS1	4719	broad.mit.edu	37	2	206992579	206992579	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:206992579G>T	ENST00000233190.5	-	16	2092	c.1826C>A	c.(1825-1827)gCa>gAa	p.A609E	NDUFS1_ENST00000440274.1_Missense_Mutation_p.A573E|NDUFS1_ENST00000423725.1_Missense_Mutation_p.A552E|NDUFS1_ENST00000457011.1_Missense_Mutation_p.A493E|NDUFS1_ENST00000455934.2_Missense_Mutation_p.A623E|NDUFS1_ENST00000449699.1_Missense_Mutation_p.A609E|NDUFS1_ENST00000432169.1_Missense_Mutation_p.A498E	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	609					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.A609E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AGGTGTCACTGCTACCTTAGT	0.458000													14	125					3.27435e-08	4.13972e-08	0.002450	1	0
HRH1	3269	broad.mit.edu	37	3	11301761	11301761	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:11301761A>G	ENST00000397056.1	+	3	1229	c.1038A>G	c.(1036-1038)atA>atG	p.I346M	HRH1_ENST00000438284.2_Missense_Mutation_p.I346M|HRH1_ENST00000431010.2_Missense_Mutation_p.I346M	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	346					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.I346M(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CCAGCGAGATATCAGAGGATC	0.552000													24	42					0	0	0.002780	0	0
CHML	1122	broad.mit.edu	37	1	241798123	241798123	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:241798123C>T	ENST00000366553.1	-	1	1109	c.946G>A	c.(946-948)Gct>Act	p.A316T	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	316					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.A316T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCCTGAAAGCTTGGTATTCA	0.343000													30	115					0	0	0.008361	0	0
GPR124	25960	broad.mit.edu	37	8	37691586	37691586	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:37691586G>T	ENST00000315215.7	+	11	1911	c.1548G>T	c.(1546-1548)gtG>gtT	p.V516V	GPR124_ENST00000412232.2_Silent_p.V516V			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	516					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V509V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCGCATCGTGGGTGCCCTGG	0.667000													14	58					7.93312e-07	9.59564e-07	0.002450	1	0
MAGEF1	64110	broad.mit.edu	37	3	184428789	184428789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:184428789C>G	ENST00000317897.3	-	1	1047	c.821G>C	c.(820-822)cGt>cCt	p.R274P		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	274	MAGE.							p.R274P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TAGGGCCTCACGGTACTGCAC	0.622000													8	46					0	0	0.003080	0	0
SYT10	341359	broad.mit.edu	37	12	33532767	33532767	+	Splice_Site	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:33532767C>G	ENST00000228567.3	-	6	1796	c.1500_splice	c.e6+1	p.E500_splice	SYT10_ENST00000535526.1_Splice_Site_p.E319_splice	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	500						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.E500D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACAAGCTTACCTCCAGCAATG	0.423000													18	77					0	0	0.001882	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75927086	75927086	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:75927086G>T	ENST00000262207.4	+	6	1134	c.666G>T	c.(664-666)cgG>cgT	p.R222R	CRISPLD1_ENST00000517786.1_Silent_p.R36R|CRISPLD1_ENST00000523524.1_Silent_p.R34R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	222						extracellular region		p.R222R(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AACATGGGCGGCCCTGTTCTG	0.418000													6	34					8.12818e-05	9.10562e-05	0.001984	1	0
CNTN3	5067	broad.mit.edu	37	3	74384005	74384005	+	Missense_Mutation	SNP	C	C	A	rs142080236		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:74384005C>A	ENST00000263665.6	-	12	1576	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	517	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V517F(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGCAATATGACGCTTTCACCA	0.393000													16	28					4.14922e-12	6.06952e-12	0.004007	1	0
CYP4F3	4051	broad.mit.edu	37	19	15752358	15752358	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:15752358T>A	ENST00000221307.7	+	2	181	c.133T>A	c.(133-135)Tgc>Agc	p.C45S	CYP4F3_ENST00000586182.1_Missense_Mutation_p.C45S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.C45S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.C45S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	45					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.C45S(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTATGACAACTGCTGCCGCCT	0.637000													32	69					0	0	0.002836	0	0
MPPED1	758	broad.mit.edu	37	22	43870647	43870647	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:43870647C>T	ENST00000417669.1	+	4	882	c.438C>T	c.(436-438)atC>atT	p.I146I	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Silent_p.I146I|MPPED1_ENST00000414469.2_Silent_p.I40I|MPPED1_ENST00000542779.1_Silent_p.I146I|MPPED1_ENST00000538182.1_Silent_p.I179I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	146							hydrolase activity	p.I146I(2)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGATCGTGATCGCAGGCAACC	0.567000													14	73					0	0	0.001855	0	0
GPR21	2844	broad.mit.edu	37	9	125797553	125797553	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:125797553T>A	ENST00000373642.1	+	1	748	c.708T>A	c.(706-708)agT>agA	p.S236R	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	236						integral to plasma membrane	G-protein coupled receptor activity	p.S236R(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GCAGCCAGAGTGGGGAGACTG	0.498000													55	141					0	0	0.003610	0	0
TBRG4	9238	broad.mit.edu	37	7	45141438	45141438	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:45141438T>C	ENST00000258770.3	-	8	1674	c.1553A>G	c.(1552-1554)tAt>tGt	p.Y518C	TBRG4_ENST00000395655.4_Missense_Mutation_p.Y408C|TBRG4_ENST00000361278.3_Missense_Mutation_p.Y408C|TBRG4_ENST00000494076.1_Missense_Mutation_p.Y518C	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	518					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.Y518C(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACCCAGCCATACTGCGTGGC	0.642000													5	70					0	0	0.001984	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540564	94540564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:94540564G>A	ENST00000289495.5	+	1	1355	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G380E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G380E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	380						cell junction|synapse|synaptosome	actin binding	p.G380E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCAGTTGTGGAAAAGAAGTA	0.428000										HNSCC(28;0.073)			7	54					0	0	0.001984	0	0
IMPG1	3617	broad.mit.edu	37	6	76660393	76660393	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:76660393G>T	ENST00000369950.3	-	13	1899	c.1710C>A	c.(1708-1710)ggC>ggA	p.G570G	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G570G(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGCTCTCGGCCCTTGGGGG	0.498000													13	53					2.31682e-05	2.65709e-05	0.003163	1	0
TOR1A	1861	broad.mit.edu	37	9	132586260	132586260	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:132586260G>A	ENST00000351698.4	-	1	153	c.105C>T	c.(103-105)acC>acT	p.T35T	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	35					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.T35T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGATGTAGCCGGTGAGGACGC	0.726000													6	16					0	0	0.001168	0	0
ETV5	2119	broad.mit.edu	37	3	185774902	185774902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:185774902C>A	ENST00000306376.5	-	11	1417	c.1171G>T	c.(1171-1173)Ggt>Tgt	p.G391C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000434744.1_Missense_Mutation_p.G391C|ETV5_ENST00000537818.1_Missense_Mutation_p.G433C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	391					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.G391C(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGCCTCGACCTGTCCAGGCA	0.522000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	46					1.12685e-05	1.31219e-05	0.004482	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6435620	6435620	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:6435620G>A	ENST00000449001.2	+	13	1949	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	PLEKHG6_ENST00000396988.3_Silent_p.E517E|PLEKHG6_ENST00000011684.7_Silent_p.E517E|PLEKHG6_ENST00000304581.8_Silent_p.E47E	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	517	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E517E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGAAGGCAGAGGAGTATGTTC	0.572000													4	49					0	0	0.001168	0	0
CD226	10666	broad.mit.edu	37	18	67563048	67563048	+	Missense_Mutation	SNP	C	C	T	rs148019790		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:67563048C>T	ENST00000280200.4	-	4	884	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	CD226_ENST00000581982.1_Missense_Mutation_p.V51I|CD226_ENST00000577287.1_Missense_Mutation_p.V51I|CD226_ENST00000582621.1_Missense_Mutation_p.V206I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	206	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.S205_V206>RI(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ATGACGATGACGCTCCACCTT	0.517000													24	156					0	0	0.003330	0	0
WEE2	494551	broad.mit.edu	37	7	141429403	141429403	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:141429403G>A	ENST00000397541.2	+	11	2014	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	536					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGGTCTCTGGGACCCACACAG	0.517000													23	60					0	0	0.002780	0	0
GIPC2	54810	broad.mit.edu	37	1	78546432	78546432	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:78546432A>G	ENST00000370759.3	+	2	507	c.314A>G	c.(313-315)gAt>gGt	p.D105G	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	105						cytoplasm		p.D105G(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGACTAGAAGATTTCATATTT	0.353000													47	117					0	0	0.003610	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328912	6328912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:6328912G>T	ENST00000344545.5	+	1	564	c.317G>T	c.(316-318)tGc>tTc	p.C106F	TPD52L3_ENST00000381428.1_Missense_Mutation_p.C106F|TPD52L3_ENST00000314556.3_Missense_Mutation_p.C106F	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	106							protein binding	p.C106F(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACTCTCATCTGCAGGAAGCTT	0.502000													25	57					7.76418e-22	1.34731e-21	0.005443	1	0
KIF3C	3797	broad.mit.edu	37	2	26203668	26203668	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:26203668C>T	ENST00000264712.3	-	1	1698	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E	KIF3C_ENST00000405914.1_Silent_p.E373E	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	373	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E373E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGGGGTCCTCGTTCACCT	0.612000													12	57					0	0	0.001368	0	0
ATRN	8455	broad.mit.edu	37	20	3527985	3527985	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:3527985T>C	ENST00000262919.5	+	5	860	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ATRN_ENST00000446916.2_Silent_p.N264N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	264					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.N264N(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AGATCAGTAATAGCAGCGATA	0.413000													5	83					0	0	0.001168	0	0
RAB34	83871	broad.mit.edu	37	17	27041710	27041710	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:27041710C>G	ENST00000395245.3	-	10	1357	c.731G>C	c.(730-732)aGc>aCc	p.S244T	RAB34_ENST00000450529.1_Missense_Mutation_p.S236T|RAB34_ENST00000395242.2_Missense_Mutation_p.S245T|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.S244T|RAB34_ENST00000395243.3_Missense_Mutation_p.S236T|RAB34_ENST00000415040.2_Missense_Mutation_p.S222T|RAB34_ENST00000447716.1_Missense_Mutation_p.S301T|RAB34_ENST00000301043.6_Missense_Mutation_p.S244T	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	244					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.S244T(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GTAGAGGTTGCTGTCATCACT	0.552000													7	83					0	0	0.003080	0	0
FDX1	2230	broad.mit.edu	37	11	110327730	110327730	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:110327730G>T	ENST00000260270.2	+	3	637	c.399G>T	c.(397-399)gaG>gaT	p.E133D		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	133	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	p.E133_E134>D*(1)		lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TCACTGATGAGGAGAATGACA	0.398000													37	104					3.93418e-24	7.03384e-24	0.004289	1	0
EPHA6	285220	broad.mit.edu	37	3	96963122	96963122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:96963122G>T	ENST00000389672.5	+	5	1635	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	EPHA6_ENST00000470610.2_Missense_Mutation_p.D533Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	438	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D439Y(2)|p.D533Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGACCACGGATCAAGATGG	0.398000													26	97					5.60225e-13	8.35616e-13	0.009535	1	0
ASH1L	55870	broad.mit.edu	37	1	155327419	155327419	+	Missense_Mutation	SNP	C	C	A	rs142726363		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:155327419C>A	ENST00000368346.3	-	14	7571	c.6932G>T	c.(6931-6933)cGg>cTg	p.R2311L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2306L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2311					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.R2306L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTTTGACCGTCCAGATTT	0.448000													27	215					9.39395e-14	1.44167e-13	0.006320	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3674161	3674161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:3674161G>T	ENST00000344754.4	-	13	3440	c.3441C>A	c.(3439-3441)taC>taA	p.Y1147*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Y1147*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1147	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Y1147*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACCGCAGCGGTAGGAGGTGG	0.657000													13	47					0.00185496	0.00198585	0.001855	1	0
SPEM1	374768	broad.mit.edu	37	17	7324683	7324683	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:7324683C>T	ENST00000323675.3	+	3	714	c.689C>T	c.(688-690)gCa>gTa	p.A230V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	230					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.A230V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTGCCAGAGGCAGAGGCGGCT	0.637000													7	21					0	0	0.003080	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968844	99968844	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:99968844G>C	ENST00000298999.3	+	5	1276	c.973G>C	c.(973-975)Gtt>Ctt	p.V325L	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.V325L	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.V325L(1)									AAATGACACTGTTAGTCCAGT	0.408000													24	87					0	0	0.003330	0	0
LRP1	4035	broad.mit.edu	37	12	57603849	57603849	+	Silent	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:57603849C>G	ENST00000243077.3	+	81	12943	c.12477C>G	c.(12475-12477)ctC>ctG	p.L4159L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4159	EGF-like 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.L4159L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGAGTGGCTCTGCCTGCTGA	0.647000													7	65					0	0	0.003080	0	0
MUC7	4589	broad.mit.edu	37	4	71346811	71346811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:71346811C>A	ENST00000413702.1	+	4	638	c.350C>A	c.(349-351)cCa>cAa	p.P117Q	MUC7_ENST00000304887.5_Missense_Mutation_p.P117Q|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P117Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	117	Thr-rich.					extracellular region	protein binding	p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GTGACTTTCCCATCAGCTTCC	0.428000													16	82					1.15088e-07	1.43118e-07	0.004007	1	0
OR14I1	401994	broad.mit.edu	37	1	248845146	248845146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:248845146C>A	ENST00000342623.3	-	1	483	c.460G>T	c.(460-462)Gca>Tca	p.A154S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A154S(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGGACGGCTGCGTAGGAAAAG	0.542000													11	44					1.08611e-07	1.35381e-07	0.000978	1	0
MED7	9443	broad.mit.edu	37	5	156565909	156565909	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:156565909T>C	ENST00000286317.5	-	2	915	c.534A>G	c.(532-534)tcA>tcG	p.S178S	MED7_ENST00000420343.1_Silent_p.S178S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	178					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	p.S178S(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCTTCTGAATGAGGCA	0.393000													19	78					0	0	0.001882	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	81					0	0	0.000602	0	0
CGB2	114336	broad.mit.edu	37	19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2									p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547000													4	79					0	0	0.000602	0	0
WNT2	7472	broad.mit.edu	37	7	116918433	116918433	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:116918433G>T	ENST00000265441.3	-	5	1158	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	287					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.L287M(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCTGTACCCAGGGAGCCTGGA	0.582000													4	14					0.00909568	0.00952624	0.009096	1	0
CSMD3	114788	broad.mit.edu	37	8	114111138	114111138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:114111138G>T	ENST00000297405.5	-	5	1008	c.764C>A	c.(763-765)cCt>cAt	p.P255H	CSMD3_ENST00000352409.3_Missense_Mutation_p.P255H|CSMD3_ENST00000343508.3_Missense_Mutation_p.P215H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P255H|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	255	CUB 2.					integral to membrane|plasma membrane		p.P255H(2)|p.P215H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAAAACTAGGGCTGGATAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	47					1.22574e-08	1.57595e-08	0.002299	1	0
JMJD1C	221037	broad.mit.edu	37	10	64968929	64968929	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:64968929T>A	ENST00000399262.2	-	9	2979	c.2761A>T	c.(2761-2763)Agt>Tgt	p.S921C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S702C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S702C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S739C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	921					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.S921C(1)|p.S702C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAATGTGACTAAGTAATCCA	0.428000													5	66					0	0	0.000602	0	0
EHBP1	23301	broad.mit.edu	37	2	63217871	63217871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:63217871G>T	ENST00000263991.5	+	18	3324	c.2842G>T	c.(2842-2844)Gac>Tac	p.D948Y	EHBP1_ENST00000431489.1_Missense_Mutation_p.D877Y|EHBP1_ENST00000405289.1_Missense_Mutation_p.D913Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D877Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D913Y|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	948						cytoplasm|membrane		p.D948Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGTTGGTGGACTTGAAGCT	0.428000													13	57					0.00010058	0.000112202	0.001368	1	0
FIBIN	387758	broad.mit.edu	37	11	27016134	27016134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:27016134G>T	ENST00000318627.2	+	1	507	c.61G>T	c.(61-63)Gat>Tat	p.D21Y		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	21						extracellular region|Golgi apparatus		p.D21Y(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGGCTACTTCGATGGCCCCCT	0.542000													32	74					4.34311e-12	6.28389e-12	0.003271	1	0
NBAS	51594	broad.mit.edu	37	2	15307192	15307192	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:15307192C>G	ENST00000281513.5	-	52	7121	c.7096G>C	c.(7096-7098)Gca>Cca	p.A2366P	NBAS_ENST00000441750.1_Missense_Mutation_p.A2246P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2366								p.A2366P(1)|p.A2366T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCTGTGCTGCGCGGAGGGCT	0.602000													14	45					0	0	0.004007	0	0
PCGF5	84333	broad.mit.edu	37	10	93000258	93000258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:93000258G>T	ENST00000336126.5	+	3	362	c.130G>T	c.(130-132)Gtt>Ttt	p.V44F	PCGF5_ENST00000543648.1_Missense_Mutation_p.V44F	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	p.V44F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GACTTGTATTGTTCAGCACTT	0.343000													24	108					3.08376e-08	3.91741e-08	0.003330	1	0
ZFP57	346171	broad.mit.edu	37	6	29640680	29640680	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:29640680T>A	ENST00000376883.1	-	6	1559	c.1148A>T	c.(1147-1149)cAg>cTg	p.Q383L	ZFP57_ENST00000376881.3_Missense_Mutation_p.Q383L|ZFP57_ENST00000488757.1_Missense_Mutation_p.Q403L			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	319					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.Q383L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTGGGCCTTCTGGTGTCTGGA	0.502000													112	255					0	0	0.003610	0	0
MICALL1	85377	broad.mit.edu	37	22	38321897	38321897	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:38321897G>T	ENST00000215957.6	+	8	1438	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	438	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A438S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ggaggaagaggCTCCAGCTGC	0.667000													6	17					3.59834e-05	4.10907e-05	0.001168	1	0
CDH18	1016	broad.mit.edu	37	5	19612583	19612583	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:19612583G>C	ENST00000507958.1	-	8	1761	c.771C>G	c.(769-771)acC>acG	p.T257T	CDH18_ENST00000511273.1_Silent_p.T257T|CDH18_ENST00000502796.1_Silent_p.T257T|CDH18_ENST00000506372.1_Silent_p.T257T|CDH18_ENST00000382275.1_Silent_p.T257T|CDH18_ENST00000274170.4_Silent_p.T257T			Q13634	CAD18_HUMAN	cadherin 18, type 2	257	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T257T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCGGTTAAGGTGATGTTGA	0.403000													11	63					0	0	0.008291	0	0
CDH12	1010	broad.mit.edu	37	5	21752327	21752327	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:21752327A>T	ENST00000382254.1	-	15	2990	c.1904T>A	c.(1903-1905)gTa>gAa	p.V635E	CDH12_ENST00000504376.2_Missense_Mutation_p.V635E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.V595E|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	635					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V635E(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCGCAGTGCTACATACAGTAC	0.388000										HNSCC(59;0.17)			19	79					0	0	0.010504	0	0
MARCH11	441061	broad.mit.edu	37	5	16067755	16067755	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:16067755C>G	ENST00000332432.8	-	4	1233	c.1034G>C	c.(1033-1035)tGg>tCg	p.W345S		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	345						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.W345S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CAATGGCAACCACAAAGTCCT	0.473000													12	107					0	0	0.001368	0	0
HSD17B4	3295	broad.mit.edu	37	5	118835179	118835179	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:118835179C>T	ENST00000504811.1	+	14	1399	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	HSD17B4_ENST00000256216.6_Silent_p.I380I|HSD17B4_ENST00000509514.1_Silent_p.I118I|HSD17B4_ENST00000515320.1_Silent_p.I362I|HSD17B4_ENST00000513628.1_Silent_p.I243I|HSD17B4_ENST00000510025.1_Silent_p.I356I|HSD17B4_ENST00000414835.2_Silent_p.I240I	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	380	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.I380I(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCGGAGTTATCATAGGTCAGA	0.383000													51	115					0	0	0.003610	0	0
DCDC1	341019	broad.mit.edu	37	11	31312315	31312315	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:31312315G>T	ENST00000597505.1	-	5	838	c.839C>A	c.(838-840)cCt>cAt	p.P280H	DCDC1_ENST00000452803.1_Missense_Mutation_p.P280H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	280					intracellular signal transduction			p.P280H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGAAAGAACAGGCTTGGTTTT	0.383000													18	60					1.00905e-13	1.53967e-13	0.008871	1	0
CDH9	1007	broad.mit.edu	37	5	26915772	26915772	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:26915772T>C	ENST00000231021.4	-	3	661	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	163	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L163L(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGGCAGTGTATAAGTCTTTTG	0.348000													30	110					0	0	0.009535	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs151141551	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657000													4	78					0	0	0.003080	0	0
RP1L1	94137	broad.mit.edu	37	8	10467247	10467247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:10467247G>T	ENST00000382483.3	-	4	4584	c.4361C>A	c.(4360-4362)cCt>cAt	p.P1454H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1454					intracellular signal transduction			p.P1454H(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGATGACTAGGGGGCTCTGT	0.637000													37	157					6.53348e-20	1.11195e-19	0.003755	1	0
HAPLN4	404037	broad.mit.edu	37	19	19369598	19369598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:19369598G>T	ENST00000291481.7	-	4	614	c.551C>A	c.(550-552)gCg>gAg	p.A184E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	184	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A184E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CTCGGCGCACGCGCGCTGCGC	0.711000													4	9					0.00909568	0.00952624	0.009096	1	0
KLHL31	401265	broad.mit.edu	37	6	53519011	53519011	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:53519011T>G	ENST00000370905.3	-	2	1200	c.1060A>C	c.(1060-1062)Aaa>Caa	p.K354Q	KLHL31_ENST00000407079.1_Missense_Mutation_p.K354Q	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.K354Q(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTAAAACTTTTGGCTGGCATT	0.473000													5	79					0	0	0.001168	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815427	106815427	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:106815427A>T	ENST00000407775.2	+	8	3367	c.3117A>T	c.(3115-3117)cgA>cgT	p.R1039R	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.R907R|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.R907R|ZFPM2_ENST00000378472.4_Silent_p.R770R|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1039					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R1039R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAAATCGAGGAATGGTAA	0.468000													19	36					0	0	0.006122	0	0
MMP2	4313	broad.mit.edu	37	16	55530930	55530930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:55530930C>T	ENST00000219070.4	+	10	2074	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	MMP2_ENST00000437642.2_Missense_Mutation_p.A472V|MMP2_ENST00000543485.1_Missense_Mutation_p.A446V|MMP2_ENST00000570308.1_Missense_Mutation_p.A446V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	522	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A522V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AAGATTGATGCGGTATACGAG	0.617000													4	87					0	0	0.000602	0	0
VEPH1	79674	broad.mit.edu	37	3	157131722	157131722	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:157131722T>A	ENST00000362010.2	-	6	1161	c.854A>T	c.(853-855)tAc>tTc	p.Y285F	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.Y285F|VEPH1_ENST00000392833.2_Missense_Mutation_p.Y285F|VEPH1_ENST00000543418.1_Missense_Mutation_p.Y285F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	285						plasma membrane		p.Y285F(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCAGTGAGGTAGGGGAATCT	0.448000													51	124					0	0	0.003610	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968236	4968236	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrY:4968236C>A	ENST00000333703.4	+	5	3097	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H873N|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H873N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	873					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H873N(2)|p.H862N(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGGCACCACACCTTAAGGC	0.428000													13	39					0.000151284	0.000167708	0.001855	1	0
MEOX1	4222	broad.mit.edu	37	17	41738613	41738613	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:41738613G>A	ENST00000318579.4	-	1	709	c.290C>T	c.(289-291)cCt>cTt	p.P97L	MEOX1_ENST00000549132.1_Silent_p.L68L|MEOX1_ENST00000329168.3_Missense_Mutation_p.P97L|MEOX1_ENST00000393661.2_5'UTR	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	97						nucleus	sequence-specific DNA binding	p.P97L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GTCTGAGACAGGGAAGTGCCA	0.677000													13	104					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92535025	92535025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:92535025G>T	ENST00000298047.6	+	9	8863	c.8846G>T	c.(8845-8847)tGg>tTg	p.W2949L	FAT3_ENST00000409404.2_Missense_Mutation_p.W2949L|FAT3_ENST00000525166.1_Missense_Mutation_p.W2799L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2949	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W2949L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCAGCACCTGGGACAGAGAC	0.498000										TCGA Ovarian(4;0.039)			15	84					4.75885e-15	7.58843e-15	0.004990	1	0
FLRT2	23768	broad.mit.edu	37	14	86088698	86088698	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:86088698G>T	ENST00000330753.4	+	2	1607	c.840G>T	c.(838-840)cgG>cgT	p.R280R	FLRT2_ENST00000554746.1_Silent_p.R280R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	280					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R280R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCTGGAACGGCTGGATATAT	0.478000													66	265					7.75977e-34	1.41111e-33	0.003610	1	0
F8	2157	broad.mit.edu	37	X	154158604	154158604	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:154158604T>C	ENST00000360256.4	-	14	3661	c.3461A>G	c.(3460-3462)gAa>gGa	p.E1154G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1154	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1154G(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGATTTTTCTGGTCCTAA	0.423000													56	37					0	0	0.003610	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645244	122645244	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:122645244G>T	ENST00000195173.4	-	9	1434	c.1131C>A	c.(1129-1131)acC>acA	p.T377T	SEMA5B_ENST00000357599.3_Silent_p.T377T|SEMA5B_ENST00000451055.2_Silent_p.T431T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	377	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.T377T(1)|p.T431T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCACACGTTGGTTGTGAAAA	0.587000													6	22					8.12818e-05	9.10562e-05	0.001984	1	0
ITGB8	3696	broad.mit.edu	37	7	20449351	20449351	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:20449351A>T	ENST00000222573.3	+	13	2821	c.2137A>T	c.(2137-2139)Agt>Tgt	p.S713C	ITGB8_ENST00000537992.1_Missense_Mutation_p.S578C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	713					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S713C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACAATGGAATAGTAATAAAAT	0.333000													34	93					0	0	0.002096	0	0
CPOX	1371	broad.mit.edu	37	3	98307565	98307565	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:98307565A>C	ENST00000264193.2	-	4	1163	c.945T>G	c.(943-945)ttT>ttG	p.F315L		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	315						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	p.F315L(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ACCATTTTTTAAATTTGGGGT	0.403000													13	48					0	0	0.001855	0	0
PHLPP2	23035	broad.mit.edu	37	16	71713315	71713315	+	Silent	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:71713315T>G	ENST00000393524.2	-	6	1747	c.1014A>C	c.(1012-1014)ccA>ccC	p.P338P	PHLPP2_ENST00000568954.1_Silent_p.P338P|PHLPP2_ENST00000356272.3_Silent_p.P338P|PHLPP2_ENST00000567016.1_Silent_p.P373P|PHLPP2_ENST00000360429.3_Silent_p.P338P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	338						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.P338P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAATTTGACTTGGTAGGTCAT	0.393000													9	42					0	0	0.004482	0	0
UNC45B	146862	broad.mit.edu	37	17	33491121	33491121	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:33491121T>C	ENST00000268876.5	+	9	1184	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	UNC45B_ENST00000433649.1_Missense_Mutation_p.Y363H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Y363H|UNC45B_ENST00000591048.1_Missense_Mutation_p.Y363H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Y363H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	363					cell differentiation|muscle organ development	cytosol	binding	p.Y363H(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)				CAACAAGCTCTATGATGACCT	0.557000													17	168					0	0	0.008871	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798481	55798481	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:55798481A>T	ENST00000313555.1	+	1	587	c.587A>T	c.(586-588)cAg>cTg	p.Q196L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q196L(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGATCAACCAGCTTCTGCTC	0.413000													72	329					0	0	0.003610	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555056	44555056	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:44555056A>T	ENST00000330682.2	-	1	1393	c.1158T>A	c.(1156-1158)gcT>gcA	p.A386A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	386	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R387G(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGTCTCTCGAGCGAGTGCGG	0.567000													48	2217					0	0	0.002780	0	0
OR1A1	8383	broad.mit.edu	37	17	3119640	3119640	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:3119640C>A	ENST00000304094.1	+	1	726	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242S(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTGTGGTTCCCACCTCACGG	0.473000													50	115					8.00217e-19	1.34467e-18	0.003610	1	0
CTTN	2017	broad.mit.edu	37	11	70279782	70279782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:70279782G>T	ENST00000301843.8	+	17	1680	c.1474G>T	c.(1474-1476)Gat>Tat	p.D492Y	CTTN_ENST00000376561.3_Missense_Mutation_p.D455Y|CTTN_ENST00000346329.3_Missense_Mutation_p.D455Y|CTTN_ENST00000538675.1_Missense_Mutation_p.D176Y	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	492	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.D492Y(2)|p.D455Y(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTACGAGAACGATCTGGGGAT	0.557000													15	62					6.31663e-08	7.92938e-08	0.003163	1	0
ITIH2	3698	broad.mit.edu	37	10	7786869	7786869	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:7786869C>G	ENST00000358415.4	+	19	2690	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L831V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	842					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L842V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTTGACTTTCTGGGAATCTA	0.433000													19	72					0	0	0.002780	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536220	69536220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:69536220C>T	ENST00000338206.5	-	1	126	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	39					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M39I(1)									GGATTGTCTTCATATTTATCC	0.448000													128	484					0	0	0.003610	0	0
LRTM2	654429	broad.mit.edu	37	12	1943774	1943774	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:1943774A>T	ENST00000543818.1	+	5	1842	c.1000A>T	c.(1000-1002)Atc>Ttc	p.I334F	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Missense_Mutation_p.I334F|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.I334F|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	334						integral to membrane		p.I334F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTATGGCTGCATCTACGCCTC	0.652000													19	42					0	0	0.007413	0	0
AP1M1	8907	broad.mit.edu	37	19	16339013	16339013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:16339013G>C	ENST00000291439.3	+	8	1331	c.882G>C	c.(880-882)atG>atC	p.M294I	AP1M1_ENST00000429941.2_Missense_Mutation_p.M294I|AP1M1_ENST00000444449.2_Missense_Mutation_p.M306I|AP1M1_ENST00000590756.1_Missense_Mutation_p.M222I|AP1M1_ENST00000541844.1_Missense_Mutation_p.M222I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	294	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.M294I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCGAGTACATGATCAAGGTGC	0.627000													4	15					0	0	0.000602	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802964	31802964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr21:31802964C>G	ENST00000334068.2	+	1	393	c.371C>G	c.(370-372)tCc>tGc	p.S124C		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	124						intermediate filament		p.S124C(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GGTTTTCCTTCCCTGAGTTAC	0.502000													14	44					0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407065	105407065	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:105407065C>T	ENST00000333244.5	-	7	14842	c.14723G>A	c.(14722-14724)aGc>aAc	p.S4908N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4908						nucleus		p.S4908N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTGGGTGCTTGGCAAGGG	0.602000													10	59					0	0	0.008291	0	0
MUC17	140453	broad.mit.edu	37	7	100682138	100682138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:100682138G>T	ENST00000306151.4	+	3	7505	c.7441G>T	c.(7441-7443)Gtt>Ttt	p.V2481F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2481	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V2481F(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAACTCCTGTTGACACCAG	0.517000													135	524					1.73106e-74	3.22524e-74	0.003610	1	0
BMP10	27302	broad.mit.edu	37	2	69092865	69092865	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:69092865G>T	ENST00000295379.1	-	2	1331	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	391					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	p.P391P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTAGCTTTGTGGGCACACAGC	0.507000													20	178					1.96292e-10	2.68637e-10	0.010504	1	0
COL15A1	1306	broad.mit.edu	37	9	101824294	101824294	+	Silent	SNP	G	G	T	rs146027381		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:101824294G>T	ENST00000375001.3	+	37	3867	c.3444G>T	c.(3442-3444)gcG>gcT	p.A1148A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1148	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.A1148A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCAGAAAGCGCATTTGGTTA	0.403000													32	115					2.81731e-10	3.82607e-10	0.002096	1	0
OR7E24	26648	broad.mit.edu	37	19	9361944	9361944	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:9361944C>A	ENST00000456448.1	+	1	339	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75T(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCTCCACACCCCCATGTACT	0.577000													17	53					3.41278e-10	4.58782e-10	0.004990	1	0
KEAP1	9817	broad.mit.edu	37	19	10610382	10610382	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:10610382T>C	ENST00000171111.5	-	2	875	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	KEAP1_ENST00000393623.2_Missense_Mutation_p.M110V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	110	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.M110V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TTGGTGAACATGGCCTTGAAG	0.607000													12	21					0	0	0.000978	0	0
GLB1L2	89944	broad.mit.edu	37	11	134239728	134239728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:134239728G>T	ENST00000535456.2	+	11	1245	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	GLB1L2_ENST00000389881.3_Missense_Mutation_p.D353Y|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D353Y	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	353					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D353Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGAAGCCGGCGATTACACGGC	0.552000													30	91					2.65835e-16	4.34333e-16	0.007291	1	0
OR14C36	127066	broad.mit.edu	37	1	248513010	248513010	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:248513010G>A	ENST00000317861.1	+	1	934	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V312M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCAGAAAATGTGTAAGAAAC	0.333000													20	107					0	0	0.008871	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933446	31933446	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr21:31933446C>T	ENST00000334849.2	-	1	187	c.163G>A	c.(163-165)Ggg>Agg	p.G55R		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	55						intermediate filament		p.G55R(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTATCCCCCATAGCATGAT	0.453000													46	106					0	0	0.003610	0	0
OR5K2	402135	broad.mit.edu	37	3	98216577	98216577	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:98216577C>A	ENST00000427338.1	+	1	130	c.53C>A	c.(52-54)aCa>aAa	p.T18K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T18K(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGGATTTACAGATCACCCT	0.388000													34	113					9.8876e-21	1.69913e-20	0.004878	1	0
TRBV11-1	28582	broad.mit.edu	37	7	142223903	142223903	+	RNA	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:142223903C>G	ENST00000390367.3	-	0	280																											CTCCTTTGAGCCTCTCTGCAG	0.532000													17	164					0	0	0.007413	0	0
HAUS6	54801	broad.mit.edu	37	9	19063030	19063030	+	Silent	SNP	T	T	C	rs34304297		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:19063030T>C	ENST00000380502.3	-	14	2072	c.1605A>G	c.(1603-1605)aaA>aaG	p.K535K	HAUS6_ENST00000380496.1_Silent_p.K399K	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	535					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.K535K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATCTTGCTCTTTTTGAAATG	0.383000													40	93					0	0	0.007835	0	0
ZP4	57829	broad.mit.edu	37	1	238045794	238045794	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:238045794G>T	ENST00000366570.4	-	12	1709	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	517					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.I517I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGCTCCAAGGATTAAGGTCC	0.468000													19	90					5.35267e-07	6.53394e-07	0.007413	1	0
CNTNAP2	26047	broad.mit.edu	37	7	148112699	148112699	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:148112699G>T	ENST00000361727.3	+	24	4503	c.3987G>T	c.(3985-3987)tgG>tgT	p.W1329C	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.W388C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1329					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.W1329C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAAGGAATGGCTCATTTGAG	0.532000										HNSCC(39;0.1)			21	64					1.96292e-10	2.68637e-10	0.010504	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967791	4967791	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrY:4967791C>A	ENST00000333703.4	+	5	2652	c.2139C>A	c.(2137-2139)ggC>ggA	p.G713G	PCDH11Y_ENST00000215473.6_Silent_p.G724G|PCDH11Y_ENST00000362095.5_Silent_p.G724G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	724	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G724G(2)|p.G713G(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTAATCCAGGCACAGTGGTCT	0.408000													14	43					3.32936e-07	4.07348e-07	0.006122	1	0
TRIM26	7726	broad.mit.edu	37	6	30164347	30164347	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:30164347C>A	ENST00000454678.2	-	6	1147	c.711G>T	c.(709-711)ctG>ctT	p.L237L	TRIM26_ENST00000437089.1_Silent_p.L237L|TRIM26_ENST00000453195.1_Silent_p.L237L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	237							DNA binding|zinc ion binding	p.L237L(1)		lung(1)|ovary(2)	3						CGGAGATGACCAGGGCCAGCC	0.682000													5	96					0.00116845	0.00125342	0.001168	1	0
MYOM3	127294	broad.mit.edu	37	1	24418670	24418670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:24418670A>G	ENST00000330966.7	-	11	1391	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	MYOM3_ENST00000374434.3_Missense_Mutation_p.I409T|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.I409T			Q5VTT5	MYOM3_HUMAN	myomesin 3	409	Fibronectin type-III 1.							p.I409T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCACCGCTCAATGGTGTAGGC	0.607000													16	60					0	0	0.003163	0	0
P2RY8	286530	broad.mit.edu	37	X	1584526	1584526	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:1584526C>G	ENST00000381297.4	-	2	1136	c.926G>C	c.(925-927)gGc>gCc	p.G309A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	309						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G309A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGCGGCAGCCCAAATATTC	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""								13	62					0	0	0.001368	0	0
MUC3A	4584	broad.mit.edu	37	7	100552896	100552896	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:100552896G>T	ENST00000319509.7	+	2	1541	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V						mucin 3A, cell surface associated									p.G514V(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGTGACAATGGTGGCACCTGG	0.562000													7	124					0.00316338	0.00336624	0.003163	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54676191	54676191	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:54676191G>T	ENST00000474759.1	+	11	1138	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A364S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A270S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A364S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	364	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A364S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGTCAGGCCATCATGCT	0.408000													11	17					7.03913e-09	9.11653e-09	0.001368	1	0
PPP6R3	55291	broad.mit.edu	37	11	68315605	68315605	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:68315605T>C	ENST00000393799.2	+	5	752	c.485T>C	c.(484-486)aTc>aCc	p.I162T	PPP6R3_ENST00000265637.4_Missense_Mutation_p.I162T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.I71T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.I162T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.I162T|PPP6R3_ENST00000393801.3_Missense_Mutation_p.I162T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.I162T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.I162T|PPP6R3_ENST00000393800.2_Missense_Mutation_p.I162T|PPP6R3_ENST00000527403.2_Missense_Mutation_p.I162T			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	162					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	p.I162T(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTCTGCTATCATGGATTTG	0.423000													27	87					0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	38931504	38931504	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:38931504G>T	ENST00000355481.4	+	2	296	c.165_splice	c.e2+1	p.Q55_splice	RYR1_ENST00000360985.3_Splice_Site_p.Q55_splice|RYR1_ENST00000359596.3_Splice_Site_p.Q55_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	55					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q55H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGCGCAGGTCTGTGCAG	0.637000													13	29					4.93089e-13	7.39634e-13	0.002450	1	0
FNDC5	252995	broad.mit.edu	37	1	33330312	33330312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:33330312C>A	ENST00000373471.3	-	5	652	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	FNDC5_ENST00000481487.1_5'UTR	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	180						integral to membrane|peroxisomal membrane		p.E121*(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGCTGGTTTCTGATGCACTC	0.567000													18	48					3.52763e-06	4.18119e-06	0.004990	1	0
DST	667	broad.mit.edu	37	6	56481510	56481510	+	Missense_Mutation	SNP	C	C	A	rs140152012	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:56481510C>A	ENST00000370765.6	-	24	6862	c.6755G>T	c.(6754-6756)gGg>gTg	p.G2252V	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1594					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.G2252V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATGACACCCCCACTGGCAAT	0.423000													23	133					7.41877e-09	9.56245e-09	0.001882	1	0
CLU	1191	broad.mit.edu	37	8	27462494	27462494	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:27462494T>A	ENST00000316403.10	-	5	1181	c.776A>T	c.(775-777)gAc>gTc	p.D259V	CLU_ENST00000523500.1_Missense_Mutation_p.D259V|CLU_ENST00000405140.3_Missense_Mutation_p.D259V|CLU_ENST00000560366.1_Missense_Mutation_p.D311V|CLU_ENST00000546343.1_Missense_Mutation_p.D270V			P10909	CLUS_HUMAN	clusterin	259					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.D311V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAAGTGGATGTCCATGGCCTG	0.562000													36	90					0	0	0.006230	0	0
OR5H6	79295	broad.mit.edu	37	3	97983303	97983303	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:97983303C>A	ENST00000383696.2	+	1	216	c.175C>A	c.(175-177)Ctt>Att	p.L59I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L59I(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGGGGAATCTTGGTCTAAT	0.413000													93	260					2.58158e-40	4.74332e-40	0.003610	1	0
SFRP1	6422	broad.mit.edu	37	8	41122771	41122771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:41122771C>T	ENST00000220772.3	-	3	1197	c.860G>A	c.(859-861)tGg>tAg	p.W287*	SFRP1_ENST00000379845.3_Nonsense_Mutation_p.W151*	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	287	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.W287*(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTCTTGTCCCACTTGTGGAT	0.517000													16	59					0	0	0.004007	0	0
FGB	2244	broad.mit.edu	37	4	155489562	155489562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:155489562G>T	ENST00000302068.4	+	5	811	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Nonsense_Mutation_p.E31*	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	250	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E250*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAAGGAGGTGAAACATCTGA	0.353000													26	67					2.79863e-10	3.81045e-10	0.004656	1	0
OR52N1	79473	broad.mit.edu	37	11	5809776	5809776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:5809776G>C	ENST00000317078.1	-	1	270	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L91V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATCTCCTTGAGATTAAACCAC	0.493000													11	124					0	0	0.001368	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177028	71177028	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:71177028C>A	ENST00000333538.5	+	11	2328	c.1694C>A	c.(1693-1695)aCg>aAg	p.T565K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	565	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T565K(1)|p.T565M(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AACAAGGGCACGGGACGCTGC	0.567000													15	92					6.31663e-08	7.92938e-08	0.003163	1	0
ADAM18	8749	broad.mit.edu	37	8	39442795	39442795	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:39442795G>T	ENST00000265707.5	+	2	101	c.55_splice	c.e2-1	p.G19_splice	ADAM18_ENST00000379866.1_Splice_Site_p.G19_splice|ADAM18_ENST00000520772.1_Splice_Site_p.G19_splice|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	19					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.G19V(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTACTGCAGGTTCTGAAGGA	0.403000													9	33					5.68852e-11	7.94896e-11	0.004482	1	0
SLC8A2	6543	broad.mit.edu	37	19	47935571	47935571	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:47935571C>T	ENST00000236877.6	-	9	2637	c.2242G>A	c.(2242-2244)Ggc>Agc	p.G748S	SLC8A2_ENST00000542837.1_Missense_Mutation_p.G504S|SLC8A2_ENST00000539381.1_Missense_Mutation_p.G211S	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	748					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G748S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGGCCCAGCCGTGGCAGTAC	0.637000													18	65					0	0	0.006122	0	0
INSRR	3645	broad.mit.edu	37	1	156815556	156815556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:156815556C>T	ENST00000368195.3	-	10	2425	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	677	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.G677W(1)|p.G677R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGATCCCCGTCTTCGCCG	0.667000													7	53					0	0	0.006214	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005823	101005823	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:101005823G>T	ENST00000537247.1	+	6	991	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	GAS2L3_ENST00000266754.5_Missense_Mutation_p.G117C|GAS2L3_ENST00000547754.1_Missense_Mutation_p.G117C|GAS2L3_ENST00000539410.1_Missense_Mutation_p.G117C			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	117					cell cycle arrest			p.G117C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTGCATCAGGTTCATTCTT	0.373000													39	88					1.62957e-23	2.89399e-23	0.008740	1	0
FBN2	2201	broad.mit.edu	37	5	127873059	127873059	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:127873059G>C	ENST00000508053.1	-	7	1212	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	FBN2_ENST00000262464.4_Missense_Mutation_p.Q80E|FBN2_ENST00000508989.1_Missense_Mutation_p.Q80E			P35556	FBN2_HUMAN	fibrillin 2	80					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q80E(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCACGTCCTGCTGTCCTCGC	0.687000													12	20					0	0	0.001855	0	0
PTPRK	5796	broad.mit.edu	37	6	128294963	128294963	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:128294963C>T	ENST00000368227.3	-	29	4396	c.4030G>A	c.(4030-4032)Ggt>Agt	p.G1344S	PTPRK_ENST00000368215.3_Missense_Mutation_p.G1326S|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1359S|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1345S|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1333S|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1327S|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1349S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1326	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1327S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCAGATAACCTTCCTGTGGC	0.393000													6	59					0	0	0.001168	0	0
EXT1	2131	broad.mit.edu	37	8	119123235	119123235	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:119123235G>A	ENST00000378204.2	-	1	857	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	17					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.L17L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ACAAAAGGGCGAGACAAGAGC	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				6	23					0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26164978	26164978	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:26164978G>T	ENST00000335473.7	+	4	1345	c.1095G>T	c.(1093-1095)ttG>ttT	p.L365F	MYO18B_ENST00000407587.2_Missense_Mutation_p.L365F|MYO18B_ENST00000536101.1_Missense_Mutation_p.L365F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	365						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.L365F(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGCGAGTTGGGGGACGATC	0.542000													3	8					0.004672	0.00493207	0.004672	1	0
KIAA1199	57214	broad.mit.edu	37	15	81224242	81224242	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:81224242C>A	ENST00000394685.3	+	22	3074	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	KIAA1199_ENST00000220244.3_Silent_p.I885I|KIAA1199_ENST00000356249.5_Silent_p.I885I|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	885								p.I885I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGGCCCCATCAACATCCAAA	0.488000													43	88					2.24893e-16	3.69716e-16	0.009718	1	0
MN1	4330	broad.mit.edu	37	22	28193499	28193499	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:28193499C>A	ENST00000302326.4	-	1	3987	c.3033G>T	c.(3031-3033)ggG>ggT	p.G1011G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1011							binding	p.G1011V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGCCCCCTTCCCCCAGGATG	0.687000			T	ETV6	"""AML, meningioma"""								5	28					0.000602214	0.000651275	0.000602	1	0
EIF4H	7458	broad.mit.edu	37	7	73588723	73588723	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:73588723T>G	ENST00000265753.8	+	1	149	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	EIF4H_ENST00000353999.6_Missense_Mutation_p.F4V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	4					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	p.F4V(1)		endometrium(1)|lung(2)|prostate(1)	4						AATGGCGGACTTCGACACCTA	0.731000													6	28					0	0	0.003080	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655394	46655394	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:46655394G>T	ENST00000253255.5	-	1	3825	c.3826C>A	c.(3826-3828)Cga>Aga	p.R1276R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1276	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R1276R(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGCTACCTCGGTAGAGAGTT	0.512000													20	78					3.8784e-16	6.31728e-16	0.001882	1	0
EXPH5	23086	broad.mit.edu	37	11	108383289	108383289	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:108383289C>A	ENST00000265843.4	-	6	3055	c.2945G>T	c.(2944-2946)tGt>tTt	p.C982F	EXPH5_ENST00000443411.1_Missense_Mutation_p.C794F|EXPH5_ENST00000525344.1_Missense_Mutation_p.C975F|EXPH5_ENST00000428840.1_Missense_Mutation_p.C906F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	982					intracellular protein transport		Rab GTPase binding	p.C982F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTTTCAATACAGGATATATG	0.378000													22	131					0.000229342	0.000251612	0.001882	1	0
LIN28B	389421	broad.mit.edu	37	6	105405135	105405135	+	Splice_Site	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:105405135G>A	ENST00000345080.4	+	1	213	c.10_splice	c.e1+1	p.G4_splice		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	4					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.G4S(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CATGGCCGAAGGTTAATTTTC	0.478000													8	58					0	0	0.004482	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391656	22391656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:22391656C>A	ENST00000263160.3	+	8	1400	c.963C>A	c.(961-963)tgC>tgA	p.C321*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	321					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C321*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAAACTTCTGCAGAAGCTGGA	0.328000													13	60					1.49906e-05	1.73044e-05	0.002450	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110413726	110413726	+	Splice_Site	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:110413726G>C	ENST00000378402.5	+	14	1386	c.1281_splice	c.e14-1	p.V428_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	428					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V430L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCGGATTAGGTGAGGATTGC	0.323000										HNSCC(38;0.096)			12	61					0	0	0.001368	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995630	19995630	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:19995630A>T	ENST00000391403.2	-	1	2248	c.2145T>A	c.(2143-2145)gcT>gcA	p.A715A		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	715	Pro-rich.					integral to membrane		p.A715A(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCAAATGGAGCACGTGGTG	0.507000													43	91					0	0	0.008740	0	0
ACTN2	88	broad.mit.edu	37	1	236911057	236911057	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:236911057G>T	ENST00000366578.4	+	13	1663	c.1497G>T	c.(1495-1497)aaG>aaT	p.K499N	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K499N	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	499					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.K499N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTACTCAGAAGAGGAGAGAAG	0.408000													8	38					0.000274275	0.000299056	0.004482	1	0
RUNX1T1	862	broad.mit.edu	37	8	92998379	92998379	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:92998379G>T	ENST00000523629.1	-	9	1706	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P381T|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P391T|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P381T|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P429T|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P391T|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P381T|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P418T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	418					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P429T(1)|p.P418T(1)|p.P381T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGTTGACGGGACTCTGCTGC	0.458000													33	177					1.49673e-21	2.58041e-21	0.006230	1	0
MCMDC2	157777	broad.mit.edu	37	8	67786809	67786809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:67786809G>T	ENST00000422365.2	+	4	444	c.273G>T	c.(271-273)caG>caT	p.Q91H	MCMDC2_ENST00000396592.3_Missense_Mutation_p.Q91H|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000492775.1_Missense_Mutation_p.Q91H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.Q91H|MCMDC2_ENST00000541540.1_Missense_Mutation_p.Q28H	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	91					DNA replication		ATP binding|DNA binding	p.Q91H(2)|p.Q86H(1)		endometrium(2)|kidney(2)|lung(5)	9						GACAATTGCAGACTGAAACGC	0.279000													4	26					1.23904e-05	1.4334e-05	0.000602	1	0
MFAP5	8076	broad.mit.edu	37	12	8813485	8813485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:8813485G>T	ENST00000359478.2	-	3	255	c.68C>A	c.(67-69)cCc>cAc	p.P23H	MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Missense_Mutation_p.P23H|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000396549.2_Missense_Mutation_p.P23H|MFAP5_ENST00000540087.1_Missense_Mutation_p.P23H|MFAP5_ENST00000535336.1_Missense_Mutation_p.P23H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	23						microfibril	extracellular matrix structural constituent	p.P23H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GACCCCCAGGGGTATCCAGTC	0.423000													27	73					1.88708e-17	3.13138e-17	0.008361	1	0
BAZ1A	11177	broad.mit.edu	37	14	35253077	35253077	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:35253077T>A	ENST00000360310.1	-	15	2455	c.1888A>T	c.(1888-1890)Act>Tct	p.T630S	BAZ1A_ENST00000382422.2_Missense_Mutation_p.T630S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.T598S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	630					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.T630S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAATCCCTAGTTGAAACTAGG	0.373000													22	70					0	0	0.010504	0	0
APCS	325	broad.mit.edu	37	1	159558125	159558125	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:159558125C>T	ENST00000255040.2	+	2	396	c.299C>T	c.(298-300)aCa>aTa	p.T100I		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	100	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.T100I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CACAAAGTTACATCCAAAGTT	0.428000													18	99					0	0	0.006122	0	0
ABCA12	26154	broad.mit.edu	37	2	215855534	215855534	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:215855534G>T	ENST00000272895.7	-	24	3735	c.3516C>A	c.(3514-3516)acC>acA	p.T1172T	ABCA12_ENST00000389661.4_Silent_p.T854T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1172					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T1172T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCAATGTTGGTGTTGTTGA	0.393000													11	61					0.000673444	0.000726827	0.008291	1	0
KCNA4	3739	broad.mit.edu	37	11	30032966	30032966	+	Silent	SNP	G	G	A	rs143729714	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:30032966G>A	ENST00000328224.6	-	2	2493	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	420						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G420G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAGGTCAGTGCCCAGTGTGA	0.512000													11	60					0	0	0.000978	0	0
MASP1	5648	broad.mit.edu	37	3	186954283	186954283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:186954283C>A	ENST00000296280.6	-	11	1601	c.1376G>T	c.(1375-1377)gGc>gTc	p.G459V	MASP1_ENST00000392472.2_Missense_Mutation_p.G346V|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	458	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.G459V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGGAAGAGGCCAGGCTCAGC	0.602000													22	81					2.21704e-12	3.25206e-12	0.002780	1	0
RYR2	6262	broad.mit.edu	37	1	237780585	237780585	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:237780585G>T	ENST00000366574.2	+	38	6032		c.e38-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTCTCTTAGATGTGCCTAC	0.398000													7	18					2.0095e-06	2.40325e-06	0.001984	1	0
ORC1	4998	broad.mit.edu	37	1	52849096	52849096	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:52849096C>T	ENST00000371568.3	-	13	2227	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	ORC1_ENST00000371566.1_Missense_Mutation_p.R670Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	670	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R670Q(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCTACCAGTCGGCTGGACAC	0.547000													11	75					0	0	0.000978	0	0
ZNF554	115196	broad.mit.edu	37	19	2834217	2834217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:2834217G>T	ENST00000317243.5	+	5	1182	c.984G>T	c.(982-984)caG>caT	p.Q328H		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q328H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCCACCAGTGTGGGAAGG	0.493000													22	57					5.35356e-11	7.50063e-11	0.002780	1	0
FOXB2	442425	broad.mit.edu	37	9	79635401	79635401	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:79635401C>A	ENST00000376708.1	+	1	831	c.831C>A	c.(829-831)ggC>ggA	p.G277G		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	277					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G277G(2)|p.G143G(1)		breast(1)|lung(8)|ovary(1)	10						ACATTATTGGCCGGGACTACA	0.692000													9	39					6.40141e-05	7.24765e-05	0.000978	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657499	72657499	+	RNA	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:72657499C>G	ENST00000425256.1	-	0	2412					NR_002164.1																						gtattcccaccttgtcgtatt	0.512000													54	210					0	0	0.003610	0	0
SEMG1	6406	broad.mit.edu	37	20	43836284	43836284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:43836284C>T	ENST00000372781.3	+	2	403	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.H116Y	NM_003007.3	NP_002998.1			semenogelin I									p.H116Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGCAGAGACCATGATAAATC	0.403000													9	66					0	0	0.004482	0	0
NRCAM	4897	broad.mit.edu	37	7	107824974	107824974	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:107824974G>T	ENST00000379028.3	-	21	2590	c.2120C>A	c.(2119-2121)gCc>gAc	p.A707D	NRCAM_ENST00000413765.2_Missense_Mutation_p.A688D|NRCAM_ENST00000425651.2_Missense_Mutation_p.A707D|NRCAM_ENST00000379022.4_Missense_Mutation_p.A707D|NRCAM_ENST00000379024.4_Missense_Mutation_p.A688D|NRCAM_ENST00000351718.4_Missense_Mutation_p.A691D			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	707	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.A707D(1)|p.A691D(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTTCAGCTGGGCTGTGGTCTG	0.517000													15	39					2.32078e-09	3.05791e-09	0.003163	1	0
SLC9A3	6550	broad.mit.edu	37	5	488523	488523	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:488523C>T	ENST00000264938.3	-	3	592	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	SLC9A3_ENST00000514375.1_Missense_Mutation_p.A195T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	195						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.A195T(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCCAGGACGGCCACCGGGTCC	0.637000													11	31					0	0	0.008291	0	0
BTBD10	84280	broad.mit.edu	37	11	13427330	13427330	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:13427330G>C	ENST00000278174.5	-	7	1127	c.882C>G	c.(880-882)ctC>ctG	p.L294L	BTBD10_ENST00000530907.1_Silent_p.L302L|BTBD10_ENST00000528120.1_Silent_p.L246L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	294						nucleus		p.L294L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CCATGAGAGGGAGGATCATTT	0.413000													37	106					0	0	0.004878	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861852	25861852	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:25861852C>A	ENST00000397060.4	-	5	734	c.625_splice	c.e5+1	p.G209_splice	SLC17A3_ENST00000361703.6_Splice_Site_p.G131_splice|SLC17A3_ENST00000360657.3_Splice_Site_p.G131_splice	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	131					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.G209*(1)|p.G131*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATGTCCTTACCTGATAAAGCA	0.423000													7	75					8.12818e-05	9.10562e-05	0.001984	1	0
C2orf40	84417	broad.mit.edu	37	2	106690424	106690424	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:106690424G>T	ENST00000409944.1	+	4	333	c.102G>T	c.(100-102)cgG>cgT	p.R34R	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Silent_p.R70R			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	70						extracellular region|transport vesicle		p.R70R(1)		lung(7)|urinary_tract(1)	8						GCCAGAAGCGGCAGCTGTGGG	0.552000													33	114					6.00712e-18	9.99932e-18	0.002445	1	0
S100A7L2	645922	broad.mit.edu	37	1	153409692	153409692	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:153409692T>A	ENST00000368725.2	-	3	180	c.181A>T	c.(181-183)Agc>Tgc	p.S61C		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2									p.S50C(1)|p.S61C(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCATGTCGCTTTTTTCCTGC	0.373000													18	84					0	0	0.008871	0	0
BEND7	222389	broad.mit.edu	37	10	13541840	13541840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:13541840C>T	ENST00000341083.3	-	3	526	c.230G>A	c.(229-231)gGg>gAg	p.G77E	BEND7_ENST00000396900.2_Missense_Mutation_p.G129E|BEND7_ENST00000396898.2_Missense_Mutation_p.G129E|BEND7_ENST00000378605.3_Missense_Mutation_p.G77E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	129							protein binding	p.G77E(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCCATACTGCCCTGAGAACTG	0.567000													29	91					0	0	0.005443	0	0
CA11	770	broad.mit.edu	37	19	49147768	49147768	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:49147768C>T	ENST00000084798.4	-	3	880	c.201G>A	c.(199-201)cgG>cgA	p.R67R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	67						extracellular region		p.R67R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CGGGGCTCTGCCGCTTCCCCA	0.592000													3	27					0	0	0.004672	0	0
NEURL4	84461	broad.mit.edu	37	17	7230117	7230117	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:7230117C>T	ENST00000399464.2	-	4	1020	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	NEURL4_ENST00000570460.1_Silent_p.K313K|NEURL4_ENST00000315614.7_Silent_p.K335K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.K335K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCAGCCGTCTTATTATTGT	0.537000													18	45					0	0	0.006122	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035740	17035740	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:17035740A>G	ENST00000355661.3	-	2	105	c.95T>C	c.(94-96)cTc>cCc	p.L32P	PLEKHA7_ENST00000532079.1_Missense_Mutation_p.S11P|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.L32P|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.L32P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	32	WW 1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.L32P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGTGCAGCGGAGCTGGTCACT	0.796000													11	20					0	0	0.001368	0	0
RRAGC	64121	broad.mit.edu	37	1	39322631	39322631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:39322631T>C	ENST00000373001.3	-	2	537	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	121					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	p.M121V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAAAGTCCATTTGCCCAGGA	0.403000													49	165					0	0	0.003610	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821012	192821012	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:192821012G>T	ENST00000392314.1	-	8	1229	c.838C>A	c.(838-840)Cat>Aat	p.H280N	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.H280N|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	280	EGF-like.					extracellular region|integral to membrane		p.H280N(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTGATAGAATGCTCACACTTC	0.363000													11	36					1.08611e-07	1.35381e-07	0.000978	1	0
SCNN1B	6338	broad.mit.edu	37	16	23360173	23360173	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:23360173G>C	ENST00000343070.2	+	2	429	c.253G>C	c.(253-255)Gta>Cta	p.V85L	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Missense_Mutation_p.V130L|SCNN1B_ENST00000568085.1_Missense_Mutation_p.V85L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.V85L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	85					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.V85L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTCCCTCTCCGTAGGCTTCAA	0.617000													10	36					0	0	0.000978	0	0
RUFY2	55680	broad.mit.edu	37	10	70143611	70143611	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:70143611C>G	ENST00000388768.2	-	10	1314	c.988G>C	c.(988-990)Gat>Cat	p.D330H	RUFY2_ENST00000602465.1_Missense_Mutation_p.D295H|RUFY2_ENST00000399200.2_Missense_Mutation_p.D261H|RUFY2_ENST00000454950.2_Missense_Mutation_p.D237H|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	344						nucleus	metal ion binding	p.D330H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TACATTTCATCTAGCCCCTGA	0.368000													30	97					0	0	0.008361	0	0
AEBP1	165	broad.mit.edu	37	7	44150526	44150526	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:44150526C>G	ENST00000223357.3	+	13	1805	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K	AEBP1_ENST00000450684.2_Missense_Mutation_p.N43K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	500	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N500K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TTCATGGGAACGTGGACAAGG	0.622000													5	49					0	0	0.000602	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130747	52130747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:52130747C>A	ENST00000222107.4	-	6	1388	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G417V|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G417V|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G417V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G417V			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	417					cell adhesion	integral to membrane	sugar binding	p.G417V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTCTGGGACCCATAGATGTT	0.637000													22	80					1.55795e-14	2.44754e-14	0.001882	1	0
TET2	54790	broad.mit.edu	37	4	106157611	106157611	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:106157611A>G	ENST00000513237.1	+	3	3372	c.2575A>G	c.(2575-2577)Aca>Gca	p.T859A	TET2_ENST00000394764.1_Missense_Mutation_p.T838A|TET2_ENST00000380013.4_Missense_Mutation_p.T838A|TET2_ENST00000540549.1_Missense_Mutation_p.T838A|TET2_ENST00000305737.2_Missense_Mutation_p.T838A|TET2_ENST00000413648.2_Missense_Mutation_p.T838A|TET2_ENST00000545826.1_Missense_Mutation_p.T838A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	838	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T838A(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCAAACAATACACACCTAGT	0.363000			"""Mis N, F"""		MDS								14	36					0	0	0.001855	0	0
ACAD11	84129	broad.mit.edu	37	3	132345611	132345611	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:132345611A>G	ENST00000264990.6	-	9	2092	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	ACAD11_ENST00000481970.2_Missense_Mutation_p.V374A|ACAD11_ENST00000355458.3_Missense_Mutation_p.V374A|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11									p.V374A(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCGAGTCTGTACAAACAACTG	0.358000													11	37					0	0	0.008291	0	0
TIAM2	26230	broad.mit.edu	37	6	155485654	155485654	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:155485654C>A	ENST00000461783.3	+	10	3407	c.2134C>A	c.(2134-2136)Ctc>Atc	p.L712I	TIAM2_ENST00000529824.2_Missense_Mutation_p.L712I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L24I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L712I|TIAM2_ENST00000456144.1_Missense_Mutation_p.L712I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L24I|TIAM2_ENST00000367174.2_Missense_Mutation_p.L64I|TIAM2_ENST00000318981.5_Missense_Mutation_p.L712I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	712					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L712I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCAAAGAGTCTCCTTGCAGC	0.557000													20	159					2.4624e-09	3.23647e-09	0.008871	1	0
OR2J2	26707	broad.mit.edu	37	6	29142241	29142241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:29142241C>A	ENST00000377167.2	+	1	931	c.829C>A	c.(829-831)Ctc>Atc	p.L277I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L277I(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTCATTGCCCTCTTTTATAC	0.443000													48	117					1.15181e-12	1.69421e-12	0.003610	1	0
PAK7	57144	broad.mit.edu	37	20	9543540	9543540	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:9543540G>A	ENST00000378429.3	-	7	2160	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	PAK7_ENST00000378423.1_Silent_p.T538T|PAK7_ENST00000353224.5_Silent_p.T538T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	538	Protein kinase.		T -> N (in a lung adenocarcinoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity	p.T538T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGCCTACCTGGTGTGAGTCA	0.463000													38	131					0	0	0.004878	0	0
OR12D2	26529	broad.mit.edu	37	6	29365229	29365229	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:29365229T>C	ENST00000383555.2	+	1	814	c.753T>C	c.(751-753)taT>taC	p.Y251Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y251Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTTTTCTATGCACCTGTTC	0.443000													26	190					0	0	0.005443	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:103143606G>C	ENST00000424685.2	-	52	8505	c.8346C>G	c.(8344-8346)ttC>ttG	p.F2782L	RELN_ENST00000343529.5_Missense_Mutation_p.F2782L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.F2782L			P78509	RELN_HUMAN	reelin	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000													13	54					0	0	0.001855	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377740	125377740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:125377740G>T	ENST00000297913.2	+	1	793	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TTCTACCTGCGGCTCCCACCT	0.557000													30	118					6.38683e-12	9.21578e-12	0.008361	1	0
DLC1	10395	broad.mit.edu	37	8	13357525	13357525	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:13357525C>A	ENST00000276297.4	-	2	465	c.56G>T	c.(55-57)gGa>gTa	p.G19V	DLC1_ENST00000316609.5_Missense_Mutation_p.G19V|DLC1_ENST00000511869.1_Missense_Mutation_p.G19V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	19					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.G19V(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAAGGCTGTCCCATCCAGTG	0.418000													19	116					2.35188e-11	3.33026e-11	0.006122	1	0
C8orf31	286122	broad.mit.edu	37	8	144124596	144124596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:144124596G>A	ENST00000395172.1	+	3	455	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	35								p.A35T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TACGCACAGGGCCCAGGGGCT	0.647000													8	49					0	0	0.003080	0	0
ABCD2	225	broad.mit.edu	37	12	39947896	39947896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:39947896C>T	ENST00000308666.3	-	10	2176	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	681	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G681R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGCCAACCTCCTTCACCATCA	0.338000													10	66					0	0	0.001368	0	0
ERBB4	2066	broad.mit.edu	37	2	212522553	212522553	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:212522553C>A	ENST00000342788.4	-	16	2182	c.1871_splice	c.e16-1	p.G624_splice	ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Splice_Site_p.G624_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	624	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.G624G(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GACCGTTACACCTGCAGGCAA	0.468000										TSP Lung(8;0.080)			33	97					8.4185e-14	1.29948e-13	0.002445	1	0
DNAH2	146754	broad.mit.edu	37	17	7696322	7696322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:7696322C>A	ENST00000572933.1	+	48	8828	c.7368C>A	c.(7366-7368)agC>agA	p.S2456R	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2456R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2456	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S2456R(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGTGCAGAGCATCATTGAGA	0.512000													20	46					1.15919e-05	1.34689e-05	0.008871	1	0
ARID4A	5926	broad.mit.edu	37	14	58772783	58772783	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:58772783A>G	ENST00000355431.3	+	5	600	c.227A>G	c.(226-228)cAg>cGg	p.Q76R	ARID4A_ENST00000395168.3_Missense_Mutation_p.Q76R|ARID4A_ENST00000431317.2_Missense_Mutation_p.Q76R|ARID4A_ENST00000348476.3_Missense_Mutation_p.Q76R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	76					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q76R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATCTTTTCAGGAAGCTATT	0.348000													20	99					0	0	0.002299	0	0
PIPSL	266971	broad.mit.edu	37	10	95720012	95720012	+	RNA	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:95720012G>A	ENST00000480546.1	-	0	1285					NR_002319.2																						ATAGAAGCCTGGGCGATGCAC	0.468000													13	138					0	0	0.002450	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321975	2321975	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:2321975C>T	ENST00000290974.2	-	7	1064	c.725G>A	c.(724-726)gGa>gAa	p.G242E	ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172E|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.G242E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTTCAGAGGTCCGTCCGCATA	0.602000													6	31					0	0	0.001168	0	0
COL1A1	1277	broad.mit.edu	37	17	48267222	48267222	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:48267222G>A	ENST00000225964.5	-	37	2729	c.2611C>T	c.(2611-2613)Cct>Tct	p.P871S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	871	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.P871S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATACTCACAGGGGGACCAGCG	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	20					0	0	0.001984	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118196354	118196354	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:118196354A>G	ENST00000369230.3	+	2	327	c.181A>G	c.(181-183)Ata>Gta	p.I61V		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	61					lipid catabolic process	extracellular region	triglyceride lipase activity	p.I61V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCTCTACACTATACACAATCC	0.393000													29	68					0	0	0.007291	0	0
ZNF271P	10778	broad.mit.edu	37	18	32886652	32886652	+	RNA	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:32886652G>T	ENST00000399070.3	+	0	1046					NR_024565.1|NR_024566.1													p.G22W(1)		large_intestine(3)|lung(9)	12						ATCCATACTGGGGAGAAACCA	0.408000													21	52					4.35082e-09	5.67637e-09	0.010504	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72490001	72490001	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:72490001C>A	ENST00000373208.1	+	6	1098	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ADAMTS14_ENST00000373207.1_Silent_p.P366P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	366	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P366P(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACTTTGGGCCCTCAGGTATGC	0.632000													4	26					0.00909568	0.00952624	0.009096	1	0
MAATS1	89876	broad.mit.edu	37	3	119445029	119445029	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:119445029C>A	ENST00000273390.5	+	7	771	c.694C>A	c.(694-696)Cca>Aca	p.P232T		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.P232T(1)									TCGGGGTCTCCCAGCAGGACA	0.542000													7	27					0.000157383	0.000174105	0.003080	1	0
H3F3B	3021	broad.mit.edu	37	17	73774911	73774911	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:73774911C>T	ENST00000254810.4	-	3	394	c.262G>A	c.(262-264)Gca>Aca	p.A88T	H3F3B_ENST00000589599.1_Missense_Mutation_p.A88T|H3F3B_ENST00000587560.1_Missense_Mutation_p.A88T|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Missense_Mutation_p.A88T|H3F3B_ENST00000591890.1_Missense_Mutation_p.A88T|H3F3B_ENST00000592643.1_Intron	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	88					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.A88T(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGATGGCTGCGCTCTGAAAC	0.602000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	0.000978	0	0
FDX1	2230	broad.mit.edu	37	11	110327731	110327731	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:110327731G>T	ENST00000260270.2	+	3	638	c.400G>T	c.(400-402)Gag>Tag	p.E134*		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	134	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	p.E133_E134>D*(1)		lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	CACTGATGAGGAGAATGACAT	0.398000													36	102					6.05902e-23	1.06888e-22	0.003755	1	0
HNF4A	3172	broad.mit.edu	37	20	42984471	42984471	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:42984471G>C	ENST00000457232.1	+	1	31	c.27G>C	c.(25-27)ggG>ggC	p.G9G		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	157					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G9G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCCCTCGGGGCTCCAGTGG	0.682000													4	28					0	0	0.009096	0	0
MCF2	4168	broad.mit.edu	37	X	138708796	138708796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:138708796C>T	ENST00000520602.1	-	8	1023	c.738G>A	c.(736-738)tgG>tgA	p.W246*	MCF2_ENST00000370576.4_Nonsense_Mutation_p.W186*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.W186*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.W186*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.W331*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.W246*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.W246*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.W147*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	186					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.W186*(2)|p.W246*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAATAGTTTGCCAGTCACCAC	0.338000													4	162					0	0	0.000602	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs145791878	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000													4	48					0	0	0.001168	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949599	235949599	+	Silent	SNP	G	G	A	rs148142077	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:235949599G>A	ENST00000409212.1	+	4	693	c.186G>A	c.(184-186)gcG>gcA	p.A62A	SH3BP4_ENST00000344528.4_Silent_p.A62A|SH3BP4_ENST00000392011.2_Silent_p.A62A			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	62	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.A62A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAGTGATTGCGATCAAGGACT	0.517000													4	174					0	0	0.000602	0	0
OR5M10	390167	broad.mit.edu	37	11	56344790	56344790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:56344790C>A	ENST00000526812.2	-	1	473	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTTCTTGGACATCCTGGAAC	0.453000													23	97					3.08376e-08	3.91741e-08	0.003330	1	0
LRP1B	53353	broad.mit.edu	37	2	141299376	141299376	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:141299376G>T	ENST00000389484.3	-	44	8330	c.7359C>A	c.(7357-7359)atC>atA	p.I2453I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2453					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.I2453I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAACAGCTATGATTCCCATTG	0.378000										TSP Lung(27;0.18)			44	100					2.81731e-22	4.92102e-22	0.003610	1	0
DCX	1641	broad.mit.edu	37	X	110574146	110574146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:110574146C>A	ENST00000356915.2	-	5	994	c.932G>T	c.(931-933)gGt>gTt	p.G311V	DCX_ENST00000488120.1_Splice_Site|DCX_ENST00000356220.3_Missense_Mutation_p.G311V|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000338081.3_Splice_Site	NM_001195553.1|NM_178152.2|NM_178153.2	NP_001182482.1|NP_835365.1|NP_835366.1	O43602	DCX_HUMAN	doublecortin	391	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.G311V(1)|p.?(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGTCGTTACCTGAGTCAGC	0.522000													42	72					1.56793e-16	2.58562e-16	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10430373	10430373	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:10430373C>A	ENST00000245503.5	-	29	4256	c.3871_splice	c.e29-1	p.G1291_splice	MYH2_ENST00000397183.2_Splice_Site_p.G1291_splice|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1291					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1291V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAAAACTCACCTGATGGACA	0.378000													7	66					2.62144e-13	3.96577e-13	0.004482	1	0
RPTN	126638	broad.mit.edu	37	1	152127701	152127701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:152127701C>A	ENST00000316073.3	-	3	1938	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	625	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G625V(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTTCCTGTCCTGGAGTCTG	0.498000													38	234					5.71845e-15	9.09131e-15	0.005524	1	0
IP6K2	51447	broad.mit.edu	37	3	48726009	48726009	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:48726009G>A	ENST00000328631.5	-	6	1201	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	326					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F326F(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AGCTTGAGTAGAAGCGGTAGG	0.572000													17	32					0	0	0.006122	0	0
NIM1K	167359	broad.mit.edu	37	5	43280356	43280356	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:43280356T>C	ENST00000512796.1	+	4	2335	c.836T>C	c.(835-837)cTa>cCa	p.L279P	NIM1_ENST00000326035.2_Missense_Mutation_p.L279P			Q8IY84	NIM1_HUMAN		279	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L279P(1)									GTGGCCAAACTAAAAAAGAGC	0.557000													4	78					0	0	0.009096	0	0
MARS2	92935	broad.mit.edu	37	2	198571261	198571261	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:198571261G>T	ENST00000282276.6	+	1	1175	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	378					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G378C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCTTCGGCAGGGCGTCCCCAA	0.537000													70	321					7.33394e-39	1.33825e-38	0.003610	1	0
DNTTIP2	30836	broad.mit.edu	37	1	94337787	94337787	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:94337787T>C	ENST00000436063.2	-	5	1965	c.1908A>G	c.(1906-1908)gaA>gaG	p.E636E		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E636E(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTTTGTCGTTCTTTCTGAA	0.338000													28	147					0	0	0.004656	0	0
EP400	57634	broad.mit.edu	37	12	132512719	132512719	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:132512719G>A	ENST00000333577.4	+	28	5484	c.5375G>A	c.(5374-5376)cGt>cAt	p.R1792H	EP400_ENST00000330386.6_Missense_Mutation_p.R1675H|EP400_ENST00000389562.2_Missense_Mutation_p.R1755H|EP400_ENST00000389561.2_Missense_Mutation_p.R1756H|EP400_ENST00000332482.4_Missense_Mutation_p.R1719H			Q96L91	EP400_HUMAN	E1A binding protein p400	1792					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1755H(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGGATGGCCGTCGTGGGAAG	0.577000													4	123					0	0	0.009096	0	0
IGFL1	374918	broad.mit.edu	37	19	46733631	46733631	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:46733631C>T	ENST00000437936.1	+	3	203	c.180C>T	c.(178-180)gtC>gtT	p.V60V	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	60						extracellular space	protein binding	p.V60V(1)		lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		ATGATGCCGTCGTGCCCTTGG	0.562000													36	123					0	0	0.004289	0	0
RAB26	25837	broad.mit.edu	37	16	2203211	2203211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:2203211C>A	ENST00000210187.6	+	8	816	c.656C>A	c.(655-657)aCa>aAa	p.T219K	RAB26_ENST00000541451.1_Missense_Mutation_p.T153K	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	219					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	p.T153K(1)		kidney(1)|large_intestine(1)|lung(3)	5						TTGGCCTTCACAGCCATAGCA	0.602000													14	26					3.27435e-08	4.13972e-08	0.002450	1	0
NPAP1	23742	broad.mit.edu	37	15	24922707	24922707	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:24922707C>A	ENST00000329468.2	+	1	2167	c.1693C>A	c.(1693-1695)Cta>Ata	p.L565I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.L565I(1)									ATCTGCCCACCTAACCTCACA	0.483000													39	95					1.03484e-13	1.57449e-13	0.005524	1	0
SULT1B1	27284	broad.mit.edu	37	4	70596264	70596264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:70596264G>T	ENST00000310613.2	-	7	1030	c.733C>A	c.(733-735)Cca>Aca	p.P245T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.P245T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACTGTAGTTGGTAGATGTGTA	0.363000													17	55					1.00905e-13	1.53967e-13	0.008871	1	0
DYSF	8291	broad.mit.edu	37	2	71838610	71838610	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:71838610C>T	ENST00000258104.3	+	38	4298	c.4021C>T	c.(4021-4023)Ctg>Ttg	p.L1341L	DYSF_ENST00000409744.1_Silent_p.L1328L|DYSF_ENST00000409582.3_Silent_p.L1358L|DYSF_ENST00000394120.2_Silent_p.L1342L|DYSF_ENST00000410020.3_Silent_p.L1359L|DYSF_ENST00000410041.1_Silent_p.L1359L|DYSF_ENST00000409366.1_Silent_p.L1342L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.L1358L|DYSF_ENST00000409651.1_Silent_p.L1373L|DYSF_ENST00000429174.2_Silent_p.L1341L|DYSF_ENST00000413539.2_Silent_p.L1372L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1341			L -> P (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L1341L(1)|p.L1359L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCATGGGGCCTGCGGAACAT	0.622000													10	53					0	0	0.006214	0	0
PIK3CB	5291	broad.mit.edu	37	3	138474811	138474811	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:138474811T>G	ENST00000477593.1	-	3	255	c.182A>C	c.(181-183)aAg>aCg	p.K61T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K61T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	61	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K61T(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGAACTTGCTTCCATAACAT	0.368000													9	51					0	0	0.006214	0	0
FBN2	2201	broad.mit.edu	37	5	127866324	127866324	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:127866324T>A	ENST00000508053.1	-	9	1374	c.400A>T	c.(400-402)Agt>Tgt	p.S134C	FBN2_ENST00000262464.4_Missense_Mutation_p.S134C|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	134	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.S134C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTTGCCCACTGGAACAAGTA	0.368000													10	29					0	0	0.001855	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506349	178506349	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:178506349G>C	ENST00000315475.6	+	5	1222	c.916G>C	c.(916-918)Ggt>Cgt	p.G306R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G306R(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TAGGGAATGTGGTAAAGCCTT	0.428000													61	120					0	0	0.003610	0	0
PLAT	5327	broad.mit.edu	37	8	42038129	42038129	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:42038129G>A	ENST00000220809.4	-	10	1220	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	PLAT_ENST00000429710.2_Missense_Mutation_p.H196Y|PLAT_ENST00000429089.2_Missense_Mutation_p.H322Y|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.H276Y|PLAT_ENST00000524009.1_Missense_Mutation_p.H233Y|PLAT_ENST00000519510.1_Missense_Mutation_p.H259Y	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	322	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.H322Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGCCAGGGGTGGGAGGCGATG	0.632000													11	75					0	0	0.000978	0	0
VPS13A	23230	broad.mit.edu	37	9	79980489	79980489	+	Splice_Site	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:79980489G>A	ENST00000360280.3	+	60	8585	c.8325_splice	c.e60+1	p.K2775_splice	VPS13A_ENST00000376634.4_Splice_Site_p.K2775_splice|VPS13A_ENST00000376636.3_Splice_Site_p.K2736_splice|VPS13A_ENST00000357409.5_Splice_Site_p.K2775_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2775					Golgi to endosome transport|protein transport	intracellular	protein binding	p.K2775K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCTATCAAGGTAGGAGAAA	0.279000													8	32					0	0	0.004482	0	0
RABEP2	79874	broad.mit.edu	37	16	28926032	28926032	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:28926032C>A	ENST00000358201.4	-	4	1092	c.504G>T	c.(502-504)gcG>gcT	p.A168A	RABEP2_ENST00000357573.6_Silent_p.A168A|RABEP2_ENST00000544477.1_Silent_p.A97A	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	168					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	p.A168A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCAGCAGCTTCGCCTTCAGCT	0.662000													32	113					9.62906e-15	1.52174e-14	0.006230	1	0
ANK2	287	broad.mit.edu	37	4	114278125	114278125	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:114278125G>T	ENST00000357077.4	+	38	8404	c.8351G>T	c.(8350-8352)aGc>aTc	p.S2784I	ANK2_ENST00000264366.6_Missense_Mutation_p.S2751I|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2751					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2784I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTCCTAGCAGCTCAGCTGCT	0.473000													21	42					2.54575e-18	4.26433e-18	0.010504	1	0
BEST1	7439	broad.mit.edu	37	11	61725728	61725728	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:61725728C>A	ENST00000449131.2	+	6	731	c.645C>A	c.(643-645)gtC>gtA	p.V215V	BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Silent_p.V275V|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000526988.1_Silent_p.V169V|BEST1_ENST00000378042.3_Silent_p.V215V	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	275					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.V275V(2)|p.V215V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TTGTGCCCGTCTTCACGTTCC	0.607000													11	91					1.58986e-06	1.90568e-06	0.008291	1	0
SMC3	9126	broad.mit.edu	37	10	112360870	112360870	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:112360870A>C	ENST00000361804.4	+	23	2752	c.2626A>C	c.(2626-2628)Act>Cct	p.T876P		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	876					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.T876P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTAAAAGACACTATGGCACG	0.343000													34	131					0	0	0.004289	0	0
PKP4	8502	broad.mit.edu	37	2	159389749	159389749	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:159389749G>T	ENST00000389757.3	+	2	178	c.53G>T	c.(52-54)cGc>cTc	p.R18L	PKP4_ENST00000389759.3_Missense_Mutation_p.R18L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	18					cell adhesion	desmosome	protein binding	p.R18L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACAGACCCGCCAGGAAGCT	0.567000										HNSCC(62;0.18)			6	24					1.26484e-09	1.67908e-09	0.003080	1	0
TACR3	6870	broad.mit.edu	37	4	104577453	104577453	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:104577453G>A	ENST00000304883.2	-	3	926	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	262						integral to plasma membrane	tachykinin receptor activity	p.I262I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAATACCCATGATGAGCAATG	0.373000													29	72					0	0	0.002445	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	97					0	0	0.000602	0	0
DSC3	1825	broad.mit.edu	37	18	28574440	28574440	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:28574440C>A	ENST00000434452.1	-	16	2670	c.2516G>T	c.(2515-2517)gGt>gTt	p.G839V	DSC3_ENST00000360428.4_Intron	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	0					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.G839V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TAATTTTTAACCAGTGTGTCC	0.244000													23	52					4.26978e-12	6.21165e-12	0.003330	1	0
CTSL3P	392360	broad.mit.edu	37	9	90388095	90388095	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:90388095C>A	ENST00000354530.2	+	0	166					NR_027917.1													p.L56I(1)									GGAACCTCTGCTTCATGACAT	0.483000													9	38					7.48243e-07	9.09192e-07	0.006214	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24959147	24959147	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:24959147C>A	ENST00000396432.2	-	3	729	c.243_splice	c.e3+1	p.K81_splice		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	80	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTCTCTTACCTTATATGAAA	0.373000													13	33					5.50884e-06	6.48601e-06	0.001368	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	107					0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	216040409	216040409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:216040409C>A	ENST00000366943.2	-	44	9171	c.8785G>T	c.(8785-8787)Gcc>Tcc	p.A2929S	USH2A_ENST00000307340.3_Missense_Mutation_p.A2929S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2929	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A2929S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGAGATTGGCTCCTCTCTCT	0.463000										HNSCC(13;0.011)			19	76					3.32936e-07	4.07348e-07	0.006122	1	0
LILRB5	10990	broad.mit.edu	37	19	54760090	54760090	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:54760090C>T	ENST00000450632.1	-	4	521	c.444G>A	c.(442-444)gaG>gaA	p.E148E	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.E157E|LILRB5_ENST00000449561.2_Silent_p.E157E			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	157	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.E148E(1)|p.E157E(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTTCTTCCTCAACAAGAA	0.582000													28	73					0	0	0.005443	0	0
IGHD4-11	28495	broad.mit.edu	37	14	106369488	106369488	+	RNA	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:106369488C>T	ENST00000431440.2	-	0	1																											TTACTGTAGTCACACAGCAGG	0.582000													46	127					0	0	0.003610	0	0
CHST3	9469	broad.mit.edu	37	10	73766983	73766983	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:73766983C>G	ENST00000373115.4	+	3	631	c.194C>G	c.(193-195)aCc>aGc	p.T65S		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	65					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.T65S(1)		endometrium(1)|lung(5)	6						GCCAACAGCACCGACCCAGCC	0.577000													14	25					0	0	0.004990	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996301	19996301	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:19996301G>T	ENST00000391403.2	-	1	1577	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	492						integral to membrane		p.P492T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CAACCCAATGGTGAGGGACCA	0.438000													70	219					3.47267e-51	6.42505e-51	0.003610	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790843	133790843	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:133790843G>A	ENST00000321016.8	-	18	3007	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	926	Pro-rich.					integral to membrane|plasma membrane		p.P926L(1)|p.P382L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGTATGCTGGTGGTGGCAG	0.706000													21	71					0	0	0.010504	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474750	140474750	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:140474750A>T	ENST00000194155.4	+	1	524	c.376A>T	c.(376-378)Agg>Tgg	p.R126W		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		126	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R126W(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTACGGATTAGGGACGTAAA	0.463000													16	49					0	0	0.004007	0	0
VAV3	10451	broad.mit.edu	37	1	108309106	108309106	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:108309106G>T	ENST00000370056.4	-	8	1058	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.Q197K|VAV3_ENST00000527011.1_Missense_Mutation_p.Q262K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	262	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.Q262K(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TACAAGTTCTGGTCATTTTTA	0.308000													7	40					5.18039e-06	6.12648e-06	0.003080	1	0
PENK	5179	broad.mit.edu	37	8	57358364	57358364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:57358364G>A	ENST00000518770.1	-	3	302	c.149C>T	c.(148-150)gCg>gTg	p.A50V	PENK_ENST00000451791.2_Intron|PENK_ENST00000314922.3_Intron|PENK_ENST00000523051.1_Intron			P01210	PENK_HUMAN	proenkephalin	47					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCGCCGCGCGCAACACTCAC	0.682000													8	64					0	0	0.004482	0	0
IFNA16	3449	broad.mit.edu	37	9	21216931	21216931	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:21216931T>A	ENST00000380216.1	-	1	379	c.374A>T	c.(373-375)cAg>cTg	p.Q125L		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	125					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.Q125L(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCCAACCTCCTGTGTCACACA	0.453000													62	211					0	0	0.003610	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916250	86916250	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:86916250G>T	ENST00000395184.1	+	9	1909	c.1443G>T	c.(1441-1443)acG>acT	p.T481T	ARHGAP24_ENST00000264343.4_Silent_p.T388T|ARHGAP24_ENST00000395183.2_Silent_p.T386T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	481					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T388T(1)|p.T481T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGAATGGAACGGTGCGCATGG	0.522000													24	77					9.95505e-16	1.61163e-15	0.002299	1	0
TMEM155	132332	broad.mit.edu	37	4	122682832	122682832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:122682832C>A	ENST00000337677.5	-	5	631	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.E25*|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.E25*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	25						extracellular region		p.E25*(1)		breast(1)|lung(5)	6						GGCATCAGTTCTGCATCTACA	0.413000													10	34					2.17888e-05	2.50973e-05	0.006214	1	0
MYO7B	4648	broad.mit.edu	37	2	128324349	128324349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:128324349C>G	ENST00000389524.4	+	5	470	c.417C>G	c.(415-417)aaC>aaG	p.N139K	MYO7B_ENST00000409816.2_Missense_Mutation_p.N139K|MYO7B_ENST00000428314.1_Missense_Mutation_p.N139K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	139	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.N139K(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATCGCCAACAACTGCTACT	0.592000													10	23					0	0	0.008291	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540577	94540577	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:94540577T>A	ENST00000289495.5	+	1	1368	c.1152T>A	c.(1150-1152)ccT>ccA	p.P384P	PPP1R9A_ENST00000433881.1_Silent_p.P384P|PPP1R9A_ENST00000424654.1_Silent_p.P384P|PPP1R9A_ENST00000340694.4_Silent_p.P384P|PPP1R9A_ENST00000433360.1_Silent_p.P384P|PPP1R9A_ENST00000456331.2_Silent_p.P384P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	384						cell junction|synapse|synaptosome	actin binding	p.P384P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAAGTACCTGAAGATTCAA	0.443000										HNSCC(28;0.073)			5	47					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	31039383	31039383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:31039383G>T	ENST00000355537.3	+	4	3004	c.2857G>T	c.(2857-2859)Gat>Tat	p.D953Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D953Y(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGGAGTGGATGGTGGTGA	0.542000													14	181					4.93089e-13	7.39634e-13	0.002450	1	0
RGS21	431704	broad.mit.edu	37	1	192335066	192335066	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:192335066G>T	ENST00000417209.2	+	5	445	c.271G>T	c.(271-273)Ggt>Tgt	p.G91C		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	91	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G91C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CATTGACTTCGGTACCAGAGA	0.308000													20	113					1.37878e-21	2.3848e-21	0.003330	1	0
TP53	7157	broad.mit.edu	37	17	7577587	7577587	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:7577587T>A	ENST00000420246.2	-	7	826	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	TP53_ENST00000359597.4_Missense_Mutation_p.I232F|TP53_ENST00000269305.4_Missense_Mutation_p.I232F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232F|TP53_ENST00000455263.2_Missense_Mutation_p.I232F|TP53_ENST00000445888.2_Missense_Mutation_p.I232F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I232F(10)|p.0?(8)|p.?(5)|p.I232V(5)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.I232L(1)|p.I139F(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*15(1)|p.T231del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTAGTGGATGGTGGTACAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	51					0	0	0.004990	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056110	58056110	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:58056110T>A	ENST00000556826.1	-	3	647	c.411A>T	c.(409-411)tcA>tcT	p.S137S	SLC35F4_ENST00000554729.1_Silent_p.S14S|SLC35F4_ENST00000339762.6_Silent_p.S173S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.S173S(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGATGATACTGACAAGATGA	0.418000													8	49					0	0	0.008291	0	0
KCNA7	3743	broad.mit.edu	37	19	49573357	49573357	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:49573357C>A	ENST00000221444.1	-	2	1689	c.1334G>T	c.(1333-1335)tGg>tTg	p.W445L		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W445L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGGGGGTGCCCAGAGTGGAGG	0.627000													20	54					1.50039e-11	2.14169e-11	0.001882	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135106639	135106639	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:135106639G>A	ENST00000368563.2	-	7	1284	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	TUBGCP2_ENST00000417178.2_Silent_p.L180L|TUBGCP2_ENST00000252936.3_Silent_p.L310L|TUBGCP2_ENST00000543663.1_Silent_p.L338L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	310					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.L310L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCTGCTCCAGCTGTGACACC	0.617000													18	48					0	0	0.004990	0	0
C10orf2	56652	broad.mit.edu	37	10	102753055	102753055	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:102753055G>A	ENST00000311916.2	+	5	2028	c.1843G>A	c.(1843-1845)Ggt>Agt	p.G615S	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	615	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.G615S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGATGTAGGTGTCTTCCC	0.522000													21	132					0	0	0.002780	0	0
CHD7	55636	broad.mit.edu	37	8	61707560	61707560	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:61707560C>T	ENST00000423902.2	+	4	2591	c.2112C>T	c.(2110-2112)gaC>gaT	p.D704D	CHD7_ENST00000525508.1_Silent_p.D704D|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	704	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.D704D(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAACCTGACTCAGAAGCAA	0.383000													20	94					0	0	0.008871	0	0
MED13	9969	broad.mit.edu	37	17	60088407	60088407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:60088407C>A	ENST00000397786.2	-	9	1547	c.1471G>T	c.(1471-1473)Gat>Tat	p.D491Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	491					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.D491Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGCTGAATCTGCGTCCATG	0.453000													12	70					3.07112e-06	3.64824e-06	0.000978	1	0
MAP2K1	5604	broad.mit.edu	37	15	66777401	66777401	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:66777401T>C	ENST00000307102.5	+	7	1298	c.767T>C	c.(766-768)aTg>aCg	p.M256T	MAP2K1_ENST00000566326.1_Missense_Mutation_p.M80T	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	256	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M256T(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTGGTAGAGATGGCGGTTGGG	0.567000													23	93					0	0	0.003330	0	0
CUBN	8029	broad.mit.edu	37	10	16975227	16975227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:16975227C>A	ENST00000377833.4	-	40	6048	c.5983G>T	c.(5983-5985)Ggc>Tgc	p.G1995C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1995	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGGCCAGCCCGGGGAGAAG	0.512000													17	50					1.67942e-08	2.15403e-08	0.006122	1	0
CES3	23491	broad.mit.edu	37	16	67006842	67006842	+	Missense_Mutation	SNP	G	G	C	rs149091298		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:67006842G>C	ENST00000303334.4	+	13	1677	c.1606G>C	c.(1606-1608)Gga>Cga	p.G536R	CES3_ENST00000543856.1_Missense_Mutation_p.G175R|CES3_ENST00000394037.1_Missense_Mutation_p.G533R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	536						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G536R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCCACGGGCCGGACAGAAGTT	0.577000													22	70					0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139165277	139165277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:139165277C>A	ENST00000395297.1	-	13	1611	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	481								p.E481*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACCTGGCTCTGGACACCTT	0.393000										HNSCC(54;0.14)			16	89					6.29468e-14	9.74483e-14	0.004878	1	0
TNIK	23043	broad.mit.edu	37	3	170858263	170858263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:170858263C>A	ENST00000436636.2	-	13	1601	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	TNIK_ENST00000475336.1_Missense_Mutation_p.Q419H|TNIK_ENST00000470834.1_Missense_Mutation_p.Q419H|TNIK_ENST00000341852.6_Missense_Mutation_p.Q419H|TNIK_ENST00000369326.5_Missense_Mutation_p.Q419H|TNIK_ENST00000357327.5_Missense_Mutation_p.Q419H|TNIK_ENST00000284483.8_Missense_Mutation_p.Q419H|TNIK_ENST00000538048.1_Missense_Mutation_p.Q419H|TNIK_ENST00000460047.1_Missense_Mutation_p.Q419H|TNIK_ENST00000488470.1_Missense_Mutation_p.Q419H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	419	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q419H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTCCCTCTCCTGCTGCTTCC	0.647000													20	168					6.44725e-10	8.6234e-10	0.002299	1	0
NPBWR1	2831	broad.mit.edu	37	8	53852566	53852566	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:53852566G>A	ENST00000331251.3	+	1	1576	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	33					synaptic transmission	plasma membrane	opioid receptor activity|protein binding	p.P33P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGCCGCTGCCGGCGCCGCTGG	0.716000													6	29					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196681688	196681688	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:196681688C>A	ENST00000312428.6	-	51	9526		c.e51-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTAACTGCCTGGAATAAAA	0.274000													10	37					0.00621372	0.00654659	0.006214	1	0
PNMAL1	55228	broad.mit.edu	37	19	46973123	46973123	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:46973123C>T	ENST00000313683.10	-	2	1475	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	390								p.K390K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGGCCCTTTCTTTGGCATCA	0.597000													10	96					0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1489886	1489886	+	Missense_Mutation	SNP	G	G	A	rs147744743	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:1489886G>A	ENST00000283415.3	-	4	713	c.581C>T	c.(580-582)gCg>gTg	p.A194V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	194					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.A194V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTTGGACTGCGCCCGTCTCTT	0.507000													6	388					0	0	0.001168	0	0
ANKIB1	54467	broad.mit.edu	37	7	91980363	91980363	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:91980363A>C	ENST00000265742.3	+	8	1561	c.1185A>C	c.(1183-1185)gtA>gtC	p.V395V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	395							protein binding|zinc ion binding	p.V395V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGAAAGTGTAGTTTCAAAGG	0.338000													4	14					0	0	0.000602	0	0
SRPK2	6733	broad.mit.edu	37	7	104782778	104782778	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:104782778T>A	ENST00000357311.3	-	10	1358	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	SRPK2_ENST00000489828.1_Missense_Mutation_p.Q396L|SRPK2_ENST00000393651.3_Missense_Mutation_p.Q407L	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	396	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q396L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCCAGTTGCTGCTCCAGTGA	0.428000													45	173					0	0	0.002852	0	0
AADACL3	126767	broad.mit.edu	37	1	12785399	12785399	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:12785399G>T	ENST00000332530.3	+	3	505	c.279G>T	c.(277-279)ctG>ctT	p.L93L	AADACL3_ENST00000359318.5_Silent_p.L163L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	163							hydrolase activity	p.L163L(1)|p.L93L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGATCCTGATCTATGCCA	0.512000													41	155					8.69298e-16	1.41161e-15	0.006999	1	0
OR56B4	196335	broad.mit.edu	37	11	6129809	6129809	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:6129809C>A	ENST00000316529.3	+	1	896	c.801C>A	c.(799-801)caC>caA	p.H267Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H267Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCACACACCTTGCAGAGA	0.512000													26	116					7.41945e-09	9.56245e-09	0.005443	1	0
CACNA1E	777	broad.mit.edu	37	1	181708384	181708384	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:181708384T>A	ENST00000526775.1	+	24	3822	c.3657T>A	c.(3655-3657)gcT>gcA	p.A1219A	CACNA1E_ENST00000358338.5_Silent_p.A1170A|CACNA1E_ENST00000367570.1_Silent_p.A1238A|CACNA1E_ENST00000360108.3_Silent_p.A1219A|CACNA1E_ENST00000367567.4_Silent_p.A845A|CACNA1E_ENST00000357570.5_Silent_p.A1189A|CACNA1E_ENST00000367573.2_Silent_p.A1238A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1238					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1238A(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCCTTTGCTCTGGCGTAAG	0.502000													87	146					0	0	0.003610	0	0
KANK4	163782	broad.mit.edu	37	1	62713183	62713183	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:62713183G>T	ENST00000371153.4	-	9	3222	c.2844C>A	c.(2842-2844)ctC>ctA	p.L948L	KANK4_ENST00000354381.3_Silent_p.L320L|KANK4_ENST00000371150.1_Silent_p.L304L|KANK4_ENST00000317477.4_Silent_p.L86L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	948								p.L949M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTGTGCCAGGAGCAGCCGCA	0.582000													10	54					1.5739e-10	2.17075e-10	0.004007	1	0
LRFN2	57497	broad.mit.edu	37	6	40400624	40400624	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:40400624C>A	ENST00000338305.6	-	2	771	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	77						cell junction|integral to membrane|postsynaptic membrane		p.G77W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACCAGCCCCGTCATGTTG	0.592000													14	42					0.000219431	0.000241238	0.002450	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555055	44555055	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:44555055G>C	ENST00000330682.2	-	1	1394	c.1159C>G	c.(1159-1161)Cga>Gga	p.R387G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	387	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R387G(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTGTCTCTCGAGCGAGTGCG	0.567000													43	2181					0	0	0.010504	0	0
AKAP6	9472	broad.mit.edu	37	14	33147594	33147594	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:33147594G>T	ENST00000280979.4	+	8	2978	c.2808G>T	c.(2806-2808)caG>caT	p.Q936H	AKAP6_ENST00000557354.1_Missense_Mutation_p.Q936H|AKAP6_ENST00000557272.1_Missense_Mutation_p.Q936H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	936					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.Q936H(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAGCGAGCAGTATACCAGCA	0.433000													11	47					6.40141e-05	7.24765e-05	0.000978	1	0
RYR2	6262	broad.mit.edu	37	1	237729891	237729891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:237729891G>T	ENST00000366574.2	+	28	3556	c.3239G>T	c.(3238-3240)gGc>gTc	p.G1080V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1078V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1064V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1080	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1078V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTGCAGCGGCACCGGGGAA	0.507000													14	44					7.93312e-07	9.59564e-07	0.002450	1	0
HEPHL1	341208	broad.mit.edu	37	11	93808458	93808458	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:93808458C>A	ENST00000315765.9	+	9	1631	c.1623C>A	c.(1621-1623)ttC>ttA	p.F541L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	541	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.F545L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCTTTACTTCTCAGCAGTTG	0.512000													16	37					2.32078e-09	3.05791e-09	0.003163	1	0
ANKEF1	63926	broad.mit.edu	37	20	10025083	10025083	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:10025083G>T	ENST00000378380.3	+	4	917	c.588G>T	c.(586-588)ggG>ggT	p.G196G	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.G196G|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.G196G(1)									CAAGAGAAGGGGTAGTGGAAA	0.448000													30	141					1.56442e-22	2.7416e-22	0.002445	1	0
REV3L	5980	broad.mit.edu	37	6	111694418	111694418	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:111694418A>G	ENST00000435970.1	-	15	5722	c.4906T>C	c.(4906-4908)Tca>Cca	p.S1636P	REV3L_ENST00000368802.3_Missense_Mutation_p.S1714P|REV3L_ENST00000368805.1_Missense_Mutation_p.S1714P|REV3L_ENST00000358835.3_Missense_Mutation_p.S1714P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1714					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.S1636P(1)|p.S1714P(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATGAGGCTGAGTCTGTGGTA	0.383000								DNA polymerases (catalytic subunits)					16	87					0	0	0.004990	0	0
ZNF772	400720	broad.mit.edu	37	19	57985284	57985284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:57985284G>T	ENST00000343280.4	-	5	1088	c.828C>A	c.(826-828)agC>agA	p.S276R	ZNF772_ENST00000356584.3_Missense_Mutation_p.S235R|ZNF772_ENST00000427512.2_Missense_Mutation_p.S164R|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S276R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AGTCTTTGCGGCTGAAGGTTT	0.488000													25	88					4.72057e-08	5.95398e-08	0.003954	1	0
IL5RA	3568	broad.mit.edu	37	3	3143466	3143466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:3143466C>A	ENST00000446632.2	-	5	851	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	IL5RA_ENST00000430514.2_Missense_Mutation_p.G93C|IL5RA_ENST00000383846.1_Missense_Mutation_p.G93C|IL5RA_ENST00000418488.2_Missense_Mutation_p.G93C|IL5RA_ENST00000438560.1_Missense_Mutation_p.G93C|IL5RA_ENST00000445864.2_Missense_Mutation_p.G93C|IL5RA_ENST00000456302.1_Missense_Mutation_p.G93C|IL5RA_ENST00000256452.3_Missense_Mutation_p.G93C|IL5RA_ENST00000311981.8_Missense_Mutation_p.G93C	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	93					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.G93C(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GCTGAAAAGCCTTTGTGGAGG	0.453000													17	39					3.41278e-10	4.58782e-10	0.004990	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711635	45711635	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:45711635G>C	ENST00000310806.4	-	4	1203	c.745C>G	c.(745-747)Caa>Gaa	p.Q249E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	249					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.Q249E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAAAATTTGTTTAGCCAAC	0.358000													19	111					0	0	0.010504	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926344	106926344	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:106926344C>A	ENST00000434710.1	-	0	277																											TAAGAGAGACCCACTCCAGAC	0.527000													33	477					1.90571e-15	3.07578e-15	0.004289	1	0
TRIB3	57761	broad.mit.edu	37	20	376888	376888	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:376888G>A	ENST00000217233.3	+	4	1184	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	TRIB3_ENST00000422053.2_Missense_Mutation_p.G238R	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	211	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.G211R(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGTGCTGACTGGGCCAGATGA	0.607000													18	38					0	0	0.006122	0	0
BAHCC1	57597	broad.mit.edu	37	17	79425854	79425854	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:79425854G>T	ENST00000307745.7	+	24	5464	c.5464G>T	c.(5464-5466)Gtg>Ttg	p.V1822L															p.V1822L(1)									GGGCCGGGCCGTGAGCCGCCT	0.662000													16	22					6.49762e-13	9.61068e-13	0.006122	1	0
C5	727	broad.mit.edu	37	9	123731377	123731377	+	Silent	SNP	G	G	A	rs142157475		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:123731377G>A	ENST00000223642.1	-	33	4211	c.4182C>T	c.(4180-4182)taC>taT	p.Y1394Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1394					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.Y1394Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAGAGTTTCCGTAGCCTCTGT	0.413000													23	89					0	0	0.004656	0	0
INTS1	26173	broad.mit.edu	37	7	1520047	1520047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:1520047C>A	ENST00000389470.4	-	31	4576	c.4577G>T	c.(4576-4578)aGc>aTc	p.S1526I	INTS1_ENST00000404767.3_Missense_Mutation_p.S1327I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1327					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.S1526I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGCTCTGGGCTGCTCTTTGG	0.622000													4	24					0.00024832	0.000271872	0.009096	1	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	108					0	0	0.001168	0	0
POTEG	404785	broad.mit.edu	37	14	19573144	19573144	+	Splice_Site	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:19573144G>A	ENST00000409832.3	+	8	1294	c.1242_splice	c.e8+1	p.K414_splice		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	414								p.K414N(1)|p.K414K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGATAGAAAGGTATACTTTT	0.318000													5	113					0	0	0.003080	0	0
C1orf200	644997	broad.mit.edu	37	1	9714445	9714445	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:9714445G>A	ENST00000377320.3	-	1	199	c.50C>T	c.(49-51)cCg>cTg	p.P17L	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200									p.P17L(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATCACACGGGGTGCCAGG	0.577000													18	58					0	0	0.006122	0	0
DYX1C1	161582	broad.mit.edu	37	15	55724738	55724738	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:55724738T>A	ENST00000321149.3	-	9	1477	c.1110A>T	c.(1108-1110)gtA>gtT	p.V370V	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1_ENST00000348518.3_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	370					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	p.V370V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTCCACGTCGTACATGTGCCT	0.333000													13	35					0	0	0.003163	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745781	77745781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:77745781G>T	ENST00000409088.3	-	3	1628	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	LRRTM4_ENST00000409911.1_Missense_Mutation_p.S406Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S405Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S405Y|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S406Y	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	405						integral to membrane		p.S405Y(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAACCCTGGGGAAGGGCTTGG	0.502000													28	66					4.22769e-11	5.9389e-11	0.006320	1	0
PPP2R5E	5529	broad.mit.edu	37	14	63920523	63920523	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:63920523G>C	ENST00000337537.3	-	3	840	c.238C>G	c.(238-240)Cta>Gta	p.L80V	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L4V|PPP2R5E_ENST00000553266.1_Intron|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L80V	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	80					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.L80V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGATCAGATAGCGTGTCCATG	0.408000													15	68					0	0	0.004007	0	0
DOCK2	1794	broad.mit.edu	37	5	169435718	169435718	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:169435718G>C	ENST00000256935.8	+	32	3280	c.3200G>C	c.(3199-3201)gGc>gCc	p.G1067A	DOCK2_ENST00000520908.1_Missense_Mutation_p.G559A|DOCK2_ENST00000540750.1_Missense_Mutation_p.G128A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1067	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.G1067A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCTAATTGGCTTCTCCATC	0.493000													27	99					0	0	0.002096	0	0
S1PR1	1901	broad.mit.edu	37	1	101705386	101705386	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:101705386C>T	ENST00000305352.6	+	2	1221	c.846C>T	c.(844-846)tgC>tgT	p.C282C		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	282					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.C282C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ATGTGGGCTGCAAGGTGAAGA	0.552000													51	183					0	0	0.003610	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1													p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662000													4	57					0	0	0.001168	0	0
OR5B12	390191	broad.mit.edu	37	11	58207550	58207550	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:58207550G>C	ENST00000302572.2	-	1	96	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACTATGAAGAGTGGGATCT	0.468000													39	123					0	0	0.008740	0	0
MRPS10	55173	broad.mit.edu	37	6	42185578	42185578	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:42185578G>A	ENST00000053468.3	-	1	25	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	4					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	p.R4W(1)		endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AACGCTGTCCGCGCCGCCATC	0.587000													6	15					0	0	0.001984	0	0
OGDHL	55753	broad.mit.edu	37	10	50945852	50945852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:50945852C>T	ENST00000374103.4	-	20	2655	c.2570G>A	c.(2569-2571)aGc>aAc	p.S857N	OGDHL_ENST00000419399.1_Missense_Mutation_p.S800N|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.S648N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	857					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.S857N(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGTCAAAGCTGGACTTGGC	0.592000													12	52					0	0	0.001855	0	0
NMUR1	10316	broad.mit.edu	37	2	232389863	232389863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:232389863C>A	ENST00000305141.4	-	3	1305	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	391					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R391M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTGGTCATCCTGCTGAGGCT	0.672000													10	35					0.00010058	0.000112202	0.001368	1	0
DHX34	9704	broad.mit.edu	37	19	47856580	47856580	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:47856580G>A	ENST00000328771.4	+	2	642	c.293G>A	c.(292-294)cGc>cAc	p.R98H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	98						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.R98H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCTACCTCGCACTTACGAC	0.617000													18	102					0	0	0.006122	0	0
PTPRB	5787	broad.mit.edu	37	12	70980899	70980899	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:70980899T>A	ENST00000334414.6	-	9	2243	c.2199A>T	c.(2197-2199)aaA>aaT	p.K733N	PTPRB_ENST00000451516.2_Missense_Mutation_p.K425N|PTPRB_ENST00000551525.1_Missense_Mutation_p.K732N|PTPRB_ENST00000261266.5_Missense_Mutation_p.K515N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K425N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.K515N|PTPRB_ENST00000550358.1_Missense_Mutation_p.K733N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	515	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K515N(2)|p.K733N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTGGCATCTTTGGAGAGTG	0.433000													10	100					0	0	0.006214	0	0
SLAMF1	6504	broad.mit.edu	37	1	160582310	160582310	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:160582310C>A	ENST00000302035.6	-	6	1274	c.925G>T	c.(925-927)Gct>Tct	p.A309S	SLAMF1_ENST00000538290.1_3'UTR|SLAMF1_ENST00000235739.5_Missense_Mutation_p.A279S	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	309					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.A309S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTGTGGCAGCAACATATATG	0.493000													14	36					2.31682e-05	2.65709e-05	0.003163	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976771	47976771	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:47976771G>C	ENST00000543600.1	-	2	494	c.455C>G	c.(454-456)tCa>tGa	p.S152*	PTCHD4_ENST00000339488.4_Nonsense_Mutation_p.S169*			Q6ZW05	CF138_HUMAN	patched domain containing 4	169						integral to membrane	hedgehog receptor activity	p.S169*(1)									GGCTCTGGCTGACTTGACCCG	0.483000													5	38					0	0	0.000602	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376161	113376161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:113376161G>T	ENST00000316407.4	-	7	4778	c.4368C>A	c.(4366-4368)aaC>aaA	p.N1456K	KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1456K|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1456	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1456K(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTAGAGATGGTTACTATGAA	0.507000													6	34					0.00198382	0.00211953	0.001984	1	0
LAMA2	3908	broad.mit.edu	37	6	129714294	129714294	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:129714294A>G	ENST00000421865.2	+	37	5388	c.5339A>G	c.(5338-5340)aAa>aGa	p.K1780R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1780	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.K1780R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGACTACAAAAACAAAGTT	0.428000													9	45					0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	40739070	40739070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:40739070G>T	ENST00000373198.3	-	24	3458	c.3223C>A	c.(3223-3225)Cac>Aac	p.H1075N	PTPRT_ENST00000373201.1_Missense_Mutation_p.H1043N|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1062N|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1063N|PTPRT_ENST00000373187.1_Missense_Mutation_p.H1053N|PTPRT_ENST00000373190.1_Missense_Mutation_p.H1052N|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1056N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1053	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAACGCCGTGGTCAGGCCAG	0.617000													13	44					2.61681e-11	3.69555e-11	0.002450	1	0
HMCN1	83872	broad.mit.edu	37	1	186062758	186062758	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:186062758C>T	ENST00000271588.4	+	66	10382	c.10153C>T	c.(10153-10155)Ctc>Ttc	p.L3385F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3385F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3385	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.L3385F(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTCTGCCTCTCTCCTCCCA	0.433000													20	136					0	0	0.002299	0	0
SP140	11262	broad.mit.edu	37	2	231090572	231090572	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:231090572G>T	ENST00000392045.3	+	1	127	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SP140_ENST00000343805.6_Missense_Mutation_p.G5C|SP140_ENST00000417495.3_Missense_Mutation_p.G5C|SP140_ENST00000486687.2_Missense_Mutation_p.G5C|SP140_ENST00000420434.3_Missense_Mutation_p.G5C|SP140_ENST00000373645.3_Missense_Mutation_p.G5C|SP140_ENST00000350136.5_5'UTR	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	5					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G5C(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCCCAGCAGGGCCAGCAGGG	0.577000													8	44					5.4927e-09	7.14859e-09	0.004482	1	0
TPTE	7179	broad.mit.edu	37	21	10910351	10910351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr21:10910351C>A	ENST00000298232.7	-	21	1718	c.1351G>T	c.(1351-1353)Ggt>Tgt	p.G451C	TPTE_ENST00000361285.4_Missense_Mutation_p.G469C|TPTE_ENST00000342420.5_Missense_Mutation_p.G431C|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G469C(1)|p.G469R(1)|p.G451R(1)|p.G451C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGGTAGACCGTCGAATACA	0.338000													20	93					2.75727e-19	4.64797e-19	0.004878	1	0
SCG3	29106	broad.mit.edu	37	15	51975475	51975475	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:51975475A>G	ENST00000220478.3	+	4	644	c.241A>G	c.(241-243)Ata>Gta	p.I81V	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	81					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.I81V(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		GCTAAAGGCAATAACAGAAAA	0.373000													80	194					0	0	0.003610	0	0
GPR139	124274	broad.mit.edu	37	16	20043415	20043415	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:20043415G>T	ENST00000570682.1	-	2	1004	c.704C>A	c.(703-705)tCc>tAc	p.S235Y		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	235						integral to membrane|plasma membrane		p.S235Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAAAGATGGAGGTAATGGT	0.527000													23	43					9.57634e-11	1.33116e-10	0.003330	1	0
OR56A4	120793	broad.mit.edu	37	11	6024014	6024014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:6024014G>T	ENST00000330728.4	-	1	410	c.365C>A	c.(364-366)tCc>tAc	p.S122Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S122*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGCAGGGAGAGGAGGCT	0.607000													20	88					8.34094e-07	1.0066e-06	0.008871	1	0
SNHG14	104472715	broad.mit.edu	37	15	25465662	25465662	+	RNA	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:25465662T>A	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1																						GATGAGAACCTTATATTGTCC	0.517000													47	125					0	0	0.003610	0	0
OR2A12	346525	broad.mit.edu	37	7	143792515	143792515	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:143792515G>A	ENST00000408949.2	+	1	375	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTATTTGGCGTTTGCTATTA	0.423000													29	109					0	0	0.006320	0	0
PHKB	5257	broad.mit.edu	37	16	47622833	47622833	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:47622833G>T	ENST00000455779.1	+	11	1052	c.867G>T	c.(865-867)ctG>ctT	p.L289L	PHKB_ENST00000323584.5_Silent_p.L296L|PHKB_ENST00000566044.1_Silent_p.L289L|PHKB_ENST00000299167.8_Silent_p.L296L|PHKB_ENST00000567402.1_3'UTR			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	296					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.L296L(2)|p.L289L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATGCTGCCCTGCTCCCCTGCA	0.428000													21	73					1.64293e-13	2.49256e-13	0.003330	1	0
WDR1	9948	broad.mit.edu	37	4	10117832	10117832	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:10117832C>G	ENST00000382452.2	-	2	325	c.43G>C	c.(43-45)Gtg>Ctg	p.V15L	WDR1_ENST00000499869.2_Missense_Mutation_p.V15L|WDR1_ENST00000502702.1_Missense_Mutation_p.V15L|WDR1_ENST00000382451.2_Missense_Mutation_p.V15L	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	15					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	p.V15L(2)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCCTCTCCACCTGCGGGAGG	0.612000													9	21					0	0	0.000978	0	0
GRM3	2913	broad.mit.edu	37	7	86468553	86468553	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:86468553G>A	ENST00000361669.2	+	4	2822	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A167T|GRM3_ENST00000536043.1_Missense_Mutation_p.A447T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	575					synaptic transmission	integral to plasma membrane		p.A575T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTGGGAAGACGCCTGGGCCAT	0.493000													13	73					0	0	0.001855	0	0
NUP214	8021	broad.mit.edu	37	9	134077033	134077033	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:134077033G>T	ENST00000359428.5	+	30	5665		c.e30-1		NUP214_ENST00000451030.1_Splice_Site|NUP214_ENST00000411637.2_Splice_Site|NUP214_ENST00000483497.2_Splice_Site			P35658	NU214_HUMAN	nucleoporin 214kDa						carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.?(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTATTTTACAGGTTTTGGGTC	0.358000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								20	80					3.99206e-14	6.19819e-14	0.007413	1	0
CPA6	57094	broad.mit.edu	37	8	68658312	68658312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:68658312C>A	ENST00000297770.4	-	1	268	c.53G>T	c.(52-54)tGc>tTc	p.C18F	CPA6_ENST00000518549.1_Missense_Mutation_p.C18F|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	18					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.C18F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAAGAGCCAGCAAAGAGGCAG	0.517000													7	46					3.09899e-07	3.81801e-07	0.004482	1	0
SLC16A5	9121	broad.mit.edu	37	17	73096184	73096184	+	Silent	SNP	G	G	T	rs114487026	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:73096184G>T	ENST00000450736.2	+	4	841	c.426G>T	c.(424-426)gcG>gcT	p.A142A	SLC16A5_ENST00000580123.1_Silent_p.A142A|SLC16A5_ENST00000329783.4_Silent_p.A142A|SLC16A5_ENST00000538213.2_Silent_p.A182A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	142					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.A142A(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCCAACGCGCTGGCCTCGA	0.652000													5	16					1.23904e-05	1.4334e-05	0.000602	1	0
MAG	4099	broad.mit.edu	37	19	35790540	35790540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:35790540G>T	ENST00000361922.4	+	5	649	c.499G>T	c.(499-501)Gag>Tag	p.E167*	MAG_ENST00000392213.3_Nonsense_Mutation_p.E167*|MAG_ENST00000537831.2_Nonsense_Mutation_p.E142*|MAG_ENST00000597035.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	167	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E167*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAACTGCCCAGAGCTGCGCCC	0.701000													3	11					0.004672	0.00493207	0.004672	1	0
WDR81	124997	broad.mit.edu	37	17	1631425	1631425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:1631425G>T	ENST00000409644.1	+	1	3172	c.3172G>T	c.(3172-3174)Gcc>Tcc	p.A1058S	WDR81_ENST00000309182.5_Missense_Mutation_p.A7S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	387								p.A7S(1)|p.A1058S(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGCCTCCTGCCTCCTCGGG	0.672000													9	4					0.000274275	0.000299056	0.004482	1	0
SLC26A4	5172	broad.mit.edu	37	7	107314662	107314662	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:107314662C>T	ENST00000265715.3	+	5	693	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	157					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.P157S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAGCATGGCCCCCGACGAACA	0.418000									Pendred syndrome				27	121					0	0	0.007291	0	0
PATE1	160065	broad.mit.edu	37	11	125617679	125617679	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:125617679C>A	ENST00000305738.5	+	4	221	c.209C>A	c.(208-210)aCa>aAa	p.T70K	PATE1_ENST00000437148.2_Missense_Mutation_p.T58K	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	70						extracellular region		p.T70K(1)		large_intestine(1)|lung(5)	6						TGCACAGCAACAACAGAAGAG	0.493000													32	99					1.99505e-19	3.3738e-19	0.002445	1	0
TICRR	90381	broad.mit.edu	37	15	90168410	90168410	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:90168410A>C	ENST00000268138.7	+	20	4974	c.4869A>C	c.(4867-4869)tcA>tcC	p.S1623S	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.S1622S					TOPBP1-interacting checkpoint and replication regulator									p.S1623S(1)									CCTATGTGTCACCCCCCTGCC	0.627000													5	35					0	0	0.004482	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713463	142713463	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:142713463C>A	ENST00000369381.2	-	0	1142																											TGTACGGAAACGTCTTGTGTT	0.328000													15	74					1.05317e-09	1.40159e-09	0.002450	1	0
XIRP2	129446	broad.mit.edu	37	2	168104772	168104772	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:168104772A>C	ENST00000409195.1	+	9	6959	c.6870A>C	c.(6868-6870)ccA>ccC	p.P2290P	XIRP2_ENST00000295237.9_Silent_p.P2290P|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2068P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2115					actin cytoskeleton organization	cell junction	actin binding	p.P2290P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCCCCTTCCACCTCCATCTC	0.418000													24	56					0	0	0.002780	0	0
LILRA1	11024	broad.mit.edu	37	19	55107721	55107721	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:55107721G>T	ENST00000251372.3	+	7	1208	c.1026G>T	c.(1024-1026)gtG>gtT	p.V342V	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	342	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.V342V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGAGAACGTGACCCTGCTGT	0.602000													22	67					1.50039e-11	2.14169e-11	0.001882	1	0
ZNF826P	664701	broad.mit.edu	37	19	20591773	20591773	+	RNA	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:20591773T>G	ENST00000502675.1	-	0	222					NR_036455.1															large_intestine(4)	4						AATCATCTCATGTCTCTTCAC	0.423000													8	22					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179418668	179418668	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:179418668C>T	ENST00000589042.1	-	333	89394	c.89170G>A	c.(89170-89172)Gaa>Aaa	p.E29724K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20784K|TTN_ENST00000342992.6_Missense_Mutation_p.E27156K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20851K|TTN_ENST00000460472.2_Missense_Mutation_p.E20659K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28083K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28083	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E27156K(1)|p.E20851K(1)|p.E20659K(1)|p.E20784K(1)|p.E27154K(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)			TTGTAGAATTCAGATGGTTCA	0.413000													17	63					0	0	0.004007	0	0
PSMA8	143471	broad.mit.edu	37	18	23713962	23713962	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:23713962C>A	ENST00000308268.6	+	1	122	c.33C>A	c.(31-33)gtC>gtA	p.V11V	PSMA8_ENST00000415576.2_Silent_p.V11V|PSMA8_ENST00000343848.6_Silent_p.V11V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.V11V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CGATCACTGTCTTCTCCCCAG	0.577000													32	118					3.76114e-14	5.89134e-14	0.004289	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350571	50350571	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:50350571G>A	ENST00000376020.2	-	6	3596	c.3571C>T	c.(3571-3573)Ctg>Ttg	p.L1191L	SHROOM4_ENST00000289292.7_Silent_p.L1191L|SHROOM4_ENST00000460112.3_Silent_p.L1075L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1191					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.L1191L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCCCTCCAGGTGGCCAAAG	0.542000													12	15					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40400625	40400625	+	Silent	SNP	C	C	A	rs139791683		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:40400625C>A	ENST00000338305.6	-	2	770	c.228G>T	c.(226-228)acG>acT	p.T76T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction|integral to membrane|postsynaptic membrane		p.G77W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACCAGCCCCGTCATGTTGG	0.592000													14	42					0.000219431	0.000241238	0.002450	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802212	185802212	+	Missense_Mutation	SNP	A	A	T	rs138088364		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:185802212A>T	ENST00000302277.6	+	4	2683	c.2089A>T	c.(2089-2091)Aca>Tca	p.T697S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	697						intracellular	zinc ion binding	p.T697S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAAGAACACAATACTTTT	0.294000													19	83					0	0	0.010504	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	69					0	0	0.001984	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552630	18552630	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:18552630C>A	ENST00000433979.1	+	15	2157	c.2041C>A	c.(2041-2043)Cgc>Agc	p.R681S	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R681S|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R722S	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	681					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R681S(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGGTTTTATCGCTTCTACTG	0.383000													13	65					3.41278e-10	4.58782e-10	0.004990	1	0
PPWD1	23398	broad.mit.edu	37	5	64883126	64883126	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:64883126G>C	ENST00000261308.5	+	11	1916	c.1844G>C	c.(1843-1845)gGa>gCa	p.G615A	PPWD1_ENST00000535264.1_Missense_Mutation_p.G585A|PPWD1_ENST00000538977.1_Missense_Mutation_p.G459A	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	615	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.G615A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GTGACTAAAGGAATGGAAGTT	0.368000													20	54					0	0	0.008871	0	0
C1orf177	163747	broad.mit.edu	37	1	55273638	55273638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:55273638G>A	ENST00000358193.3	+	4	488	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	C1orf177_ENST00000371273.3_Missense_Mutation_p.R145Q	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	145								p.R145Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGTAGCACCCGGGGGCTGCTC	0.567000													28	67					0	0	0.004656	0	0
LPL	4023	broad.mit.edu	37	8	19805737	19805737	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:19805737C>A	ENST00000311322.8	+	2	605	c.135C>A	c.(133-135)acC>acA	p.T45T	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	45					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.T45T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCCTAAGGACCCCTGAAGACA	0.443000													18	93					3.32936e-07	4.07348e-07	0.006122	1	0
SEMA6C	10500	broad.mit.edu	37	1	151108132	151108132	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:151108132T>C	ENST00000341697.3	-	14	3059	c.1368A>G	c.(1366-1368)ccA>ccG	p.P456P				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	456	Sema.					integral to membrane	receptor activity	p.P456P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCGCCCACCTGGGGTCAGCA	0.602000													18	133					0	0	0.001882	0	0
TRIM58	25893	broad.mit.edu	37	1	248039439	248039439	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:248039439A>G	ENST00000366481.3	+	6	1157	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	370	B30.2/SPRY.					intracellular	zinc ion binding	p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCCAAGAAAGGGGGAAACC	0.562000													33	96					0	0	0.003271	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284187	86284187	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:86284187G>A	ENST00000376395.4	-	7	1684	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	UBQLN1_ENST00000257468.7_Silent_p.N387N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	387					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.N387N(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCAGTTGTGGGTTTTCAGTTA	0.388000													7	31					0	0	0.001984	0	0
PEAR1	375033	broad.mit.edu	37	1	156873709	156873709	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:156873709G>T	ENST00000338302.3	+	3	216		c.e3-1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1							integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTTGCTGCAGGCCTCTGCAA	0.632000													48	68					2.74695e-27	4.96133e-27	0.003610	1	0
EPHB6	2051	broad.mit.edu	37	7	142562205	142562205	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:142562205C>T	ENST00000392957.2	+	7	1434	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	216						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.T201M(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGGACACGGGGGCCTGC	0.657000													48	172					0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761691	130761691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:130761691C>A	ENST00000392429.1	+	2	2502	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R42S|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R42S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	42						integral to membrane		p.R42S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCATCAGGCGCCGGCCCCG	0.527000													12	154					9.05144e-12	1.30252e-11	0.001855	1	0
RYR1	6261	broad.mit.edu	37	19	38937347	38937347	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:38937347G>A	ENST00000355481.4	+	9	870	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RYR1_ENST00000360985.3_Missense_Mutation_p.E247K|RYR1_ENST00000359596.3_Missense_Mutation_p.E247K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	247	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E247K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCTACTATGAGGGGGGAGC	0.597000													9	59					0	0	0.008291	0	0
GJD4	219770	broad.mit.edu	37	10	35894512	35894512	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:35894512T>C	ENST00000321660.1	+	1	175	c.17T>C	c.(16-18)tTg>tCg	p.L6S		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	6					cell communication	connexon complex|integral to membrane		p.L6S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCGTGGACTTGCTAGGGTTT	0.507000													10	80					0	0	0.000978	0	0
OR56A4	120793	broad.mit.edu	37	11	6024013	6024013	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:6024013G>C	ENST00000330728.4	-	1	411	c.366C>G	c.(364-366)tcC>tcG	p.S122S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S122*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCAGCAGGGAGAGGAGGC	0.602000													20	86					0	0	0.008871	0	0
WNK3	65267	broad.mit.edu	37	X	54359977	54359977	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chrX:54359977T>C	ENST00000354646.2	-	2	568	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	WNK3_ENST00000375159.2_Missense_Mutation_p.S44G|WNK3_ENST00000375169.3_Missense_Mutation_p.S44G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	44					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S44G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAGAAGGTACTGTTTTTCTCC	0.423000													35	56					0	0	0.005524	0	0
GLP2R	9340	broad.mit.edu	37	17	9737166	9737166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:9737166C>A	ENST00000262441.5	+	2	745	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	78					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.Q78K(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAAGTGGGCTCAGTACAAACA	0.478000													12	33					9.31168e-06	1.0915e-05	0.001855	1	0
C11orf58	10944	broad.mit.edu	37	11	16760379	16760379	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:16760379A>T	ENST00000228136.4	+	1	432	c.54A>T	c.(52-54)ccA>ccT	p.P18P	C11orf58_ENST00000422258.2_5'UTR|C11orf58_ENST00000525684.1_Silent_p.P18P|C11orf58_ENST00000527893.1_Intron			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	18								p.P18P(1)		NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						CAGCCTCCCCAGACGACGATG	0.597000													13	42					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57325950	57325950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:57325950C>A	ENST00000326441.9	-	10	4223	c.3860G>T	c.(3859-3861)tGt>tTt	p.C1287F	PEG3_ENST00000598410.1_Missense_Mutation_p.C1163F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1287F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C1161F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1287					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1287F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATTCTCCACAGACTGCACA	0.478000													17	43					7.07596e-05	7.99433e-05	0.006122	1	0
SMYD2	56950	broad.mit.edu	37	1	214478535	214478535	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:214478535A>G	ENST00000366957.5	+	2	201	c.179A>G	c.(178-180)gAa>gGa	p.E60G	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.E60G	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	60					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	p.E60G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTAAGGAAAGAAGGATTGTCC	0.458000													40	186					0	0	0.002522	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204691	43204691	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr18:43204691A>T	ENST00000255226.6	+	2	878	c.62A>T	c.(61-63)tAc>tTc	p.Y21F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.Y21F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	21						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.Y21F(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAAACTCTACGAGGCAGAG	0.557000													18	93					0	0	0.001882	0	0
PKHD1	5314	broad.mit.edu	37	6	51619626	51619626	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:51619626C>T	ENST00000371117.3	-	56	9028	c.8753G>A	c.(8752-8754)gGc>gAc	p.G2918D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2918D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2918					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G2918D(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACATGGTGGCCCTTGACTTC	0.473000													15	82					0	0	0.002450	0	0
HUNK	30811	broad.mit.edu	37	21	33346920	33346920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr21:33346920T>A	ENST00000270112.2	+	7	1424	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	355					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.L355Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCGAGAAGCTGGGTTACAAG	0.552000													38	55					0	0	0.004289	0	0
SPTA1	6708	broad.mit.edu	37	1	158604367	158604367	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:158604367C>A	ENST00000368148.3	-	39	5711	c.5531G>T	c.(5530-5532)cGa>cTa	p.R1844L	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R1844L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1844					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.R1844L(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)					ACAATCTCCTCGGACAGCCAA	0.403000													31	134					4.31634e-10	5.78781e-10	0.002445	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084304	89084304	+	RNA	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:89084304G>C	ENST00000393525.3	+	0	672																											ACAACAATCTGGGAGACATAA	0.378000													7	24					0	0	0.003080	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	70					0	0	0.000602	0	0
HCN4	10021	broad.mit.edu	37	15	73615894	73615894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:73615894G>T	ENST00000261917.3	-	8	3533	c.2540C>A	c.(2539-2541)tCc>tAc	p.S847Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	847					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.S847Y(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCCACCTGGGACGGGCTGCT	0.667000													16	74					3.99206e-14	6.19819e-14	0.007413	1	0
HECW1	23072	broad.mit.edu	37	7	43483856	43483856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:43483856C>A	ENST00000395891.1	+	11	1690	c.1085C>A	c.(1084-1086)gCc>gAc	p.A362D	HECW1_ENST00000453890.1_Missense_Mutation_p.A362D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	362					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.A362D(1)|p.A341D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGAGTCAGCCCAAATTCAG	0.512000													11	40					6.42651e-13	9.53206e-13	0.000978	1	0
ANKRD17	26057	broad.mit.edu	37	4	73956470	73956470	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:73956470G>A	ENST00000358602.4	-	29	6991	c.6875C>T	c.(6874-6876)cCa>cTa	p.P2292L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2041L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2179L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2292					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.P2292L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTGAATTTGGCAAATATGA	0.428000													37	121					0	0	0.004289	0	0
KANK4	163782	broad.mit.edu	37	1	62713182	62713182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:62713182G>T	ENST00000371153.4	-	9	3223	c.2845C>A	c.(2845-2847)Ctg>Atg	p.L949M	KANK4_ENST00000354381.3_Missense_Mutation_p.L321M|KANK4_ENST00000371150.1_Missense_Mutation_p.L305M|KANK4_ENST00000317477.4_Missense_Mutation_p.L87M	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	949								p.L949M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGTGTGCCAGGAGCAGCCGC	0.587000													8	54					2.32078e-09	3.05791e-09	0.003163	1	0
GRM6	2916	broad.mit.edu	37	5	178417662	178417662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:178417662G>T	ENST00000231188.5	-	4	1121	c.943C>A	c.(943-945)Ccc>Acc	p.P315T	GRM6_ENST00000517717.1_Missense_Mutation_p.P315T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	315					detection of visible light|visual perception	integral to plasma membrane		p.P315T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCAAGATGGGTGAGGTCTTG	0.672000													3	15					0.004672	0.00493207	0.004672	1	0
CFHR5	81494	broad.mit.edu	37	1	196971786	196971786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:196971786G>T	ENST00000367414.5	+	8	1450	c.1394G>T	c.(1393-1395)cGc>cTc	p.R465L	CFHR5_ENST00000256785.4_Missense_Mutation_p.R441L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 8.				complement activation, alternative pathway	extracellular region		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328000													11	43					2.27111e-07	2.81109e-07	0.001368	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013164	73013164	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr4:73013164G>T	ENST00000308744.6	+	4	1302	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	NPFFR2_ENST00000395999.1_Missense_Mutation_p.A303S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.A300S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	402					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.A402S(1)|p.A402T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCAGACTACGCTGACCTTTC	0.463000													25	90					1.1804e-14	1.85991e-14	0.003954	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627175	43627175	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:43627175T>A	ENST00000332857.6	-	4	1540	c.1512A>T	c.(1510-1512)ccA>ccT	p.P504P		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P504P(1)									GAGATAGGACTGGGAAAGAAG	0.532000													158	588					0	0	0.003610	0	0
ENTPD7	57089	broad.mit.edu	37	10	101464343	101464343	+	Missense_Mutation	SNP	G	G	A	rs61738520		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:101464343G>A	ENST00000370489.4	+	13	1896	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	573						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.R573H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTGCGGCTACGCCGAATTCAC	0.547000													12	58					0	0	0.000978	0	0
TTC30B	150737	broad.mit.edu	37	2	178417116	178417116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:178417116C>A	ENST00000408939.2	-	1	626	c.376G>T	c.(376-378)Gag>Tag	p.E126*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	126					cell projection organization	cilium	binding	p.E126*(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGATCGCCCTCGCTGTACTTG	0.627000													54	148					1.48341e-19	2.51658e-19	0.003610	1	0
FAM20B	9917	broad.mit.edu	37	1	179013302	179013302	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:179013302A>G	ENST00000263733.4	+	2	656	c.320A>G	c.(319-321)cAg>cGg	p.Q107R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	107						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	p.Q107R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AAAGGGACACAGCTGAAAGCC	0.463000													3	82					0	0	0.004672	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865914	47865914	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:47865914C>A	ENST00000396105.1	-	14	3893	c.3647G>T	c.(3646-3648)cGc>cTc	p.R1216L	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1216L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1216							metal ion binding	p.R1216L(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACACAGATGCGGTTGGATAT	0.517000													69	112					8.47719e-14	1.30475e-13	0.003610	1	0
PLCE1	51196	broad.mit.edu	37	10	95931002	95931002	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:95931002A>T	ENST00000260766.3	+	4	2192	c.1558A>T	c.(1558-1560)Aag>Tag	p.K520*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.K212*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.K212*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.K520*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	520					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.K212*(1)|p.K520*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGATCAGCAAGGAGCTGAT	0.532000													21	122					0	0	0.008871	0	0
RFPL1	5988	broad.mit.edu	37	22	29837555	29837555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr22:29837555C>G	ENST00000354373.2	+	2	607	c.398C>G	c.(397-399)aCa>aGa	p.T133R	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	133	B30.2/SPRY.						zinc ion binding	p.T133R(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GATGCCGACACAGCCAACAAC	0.502000													10	77					0	0	0.008291	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543136	182543136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:182543136C>A	ENST00000295108.3	-	2	909	c.452G>T	c.(451-453)tGg>tTg	p.W151L	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	151	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.W151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGACAGAGCCCAGATGTAGTT	0.557000													20	79					1.2644e-06	1.52245e-06	0.010504	1	0
MYH1	4619	broad.mit.edu	37	17	10400385	10400385	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:10400385C>A	ENST00000226207.5	-	33	4751		c.e33+1		CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult							muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAAATGCTTACCTCTGCCTCC	0.373000													15	67					5.01169e-05	5.69852e-05	0.004990	1	0
OR9K2	441639	broad.mit.edu	37	12	55523769	55523769	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:55523769A>T	ENST00000305377.5	+	1	305	c.217A>T	c.(217-219)Att>Ttt	p.I73F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I73F(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GATGATGACCATTATTATGAC	0.428000													6	281					0	0	0.001168	0	0
OIT3	170392	broad.mit.edu	37	10	74660154	74660154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:74660154C>A	ENST00000334011.5	+	3	674	c.456C>A	c.(454-456)gaC>gaA	p.D152E		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	152						nuclear envelope	calcium ion binding	p.D152E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACATCTGCGACGAGGACTGCC	0.488000													5	26					3.59834e-05	4.10907e-05	0.001168	1	0
GRIK2	2898	broad.mit.edu	37	6	101847268	101847268	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:101847268G>T	ENST00000369138.1	+	1	605	c.115_splice	c.e1+1	p.G39_splice	GRIK2_ENST00000369137.3_Splice_Site_p.G39_splice|GRIK2_ENST00000358361.3_Splice_Site_p.G39_splice|GRIK2_ENST00000413795.1_Splice_Site_p.G39_splice|GRIK2_ENST00000318991.6_Splice_Site_p.G39_splice|GRIK2_ENST00000421544.1_Splice_Site_p.G39_splice	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	39					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G39C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTAAGATTTGGTAAGATTCC	0.512000													13	51					0.000151284	0.000167708	0.001855	1	0
MIA3	375056	broad.mit.edu	37	1	222800922	222800922	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:222800922G>T	ENST00000344922.5	+	4	385	c.360G>T	c.(358-360)acG>acT	p.T120T	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.T120T|MIA3_ENST00000344507.1_Silent_p.T120T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	120					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.T120T(2)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TACAGGAGACGGATTTTGTTT	0.343000													32	237					3.90053e-15	6.23849e-15	0.002445	1	0
NUP62	23636	broad.mit.edu	37	19	50412101	50412101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr19:50412101C>T	ENST00000596217.1	-	2	2851	c.964G>A	c.(964-966)Gcg>Acg	p.A322T	NUP62_ENST00000597029.1_Missense_Mutation_p.A322T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A322T|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.A322T|NUP62_ENST00000413454.1_Missense_Mutation_p.A322T			P37198	NUP62_HUMAN	nucleoporin 62kDa	322	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.A322T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGCAGCCGCCCCTGCAGCT	0.642000													5	54					0	0	0.001168	0	0
SEMG1	6406	broad.mit.edu	37	20	43836956	43836956	+	Missense_Mutation	SNP	A	A	G	rs56342547		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:43836956A>G	ENST00000372781.3	+	2	1075	c.1018A>G	c.(1018-1020)Agc>Ggc	p.S340G	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I									p.S340G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCAAGAGCATAGCCAAAAGGC	0.403000													5	41					0	0	0.000602	0	0
CUBN	8029	broad.mit.edu	37	10	16975228	16975228	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr10:16975228C>A	ENST00000377833.4	-	40	6047	c.5982G>T	c.(5980-5982)ccG>ccT	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507000													16	50					1.99824e-07	2.47912e-07	0.004990	1	0
ACSM5	54988	broad.mit.edu	37	16	20448612	20448612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:20448612G>T	ENST00000331849.4	+	12	1606	c.1459G>T	c.(1459-1461)Gtg>Ttg	p.V487L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	487					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.V487L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCTGTTGAAGTGGAAAGTGC	0.552000													15	64					6.72482e-11	9.37239e-11	0.003163	1	0
PSMC6	5706	broad.mit.edu	37	14	53173934	53173934	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:53173934C>T	ENST00000445930.2	+	1	45	c.39C>T	c.(37-39)ctC>ctT	p.L13L	PSMC6_ENST00000606149.1_5'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.L13L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GACGGCTTCTCATCATGGCGG	0.622000													16	48					0	0	0.004007	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542439	142542439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr3:142542439G>T	ENST00000295992.3	-	7	1190	c.884C>A	c.(883-885)gCc>gAc	p.A295D	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	295						extracellular region	collagen binding|heparin binding|peptidase activator activity	p.A295D(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGACACAAGGCCACGGTGGG	0.368000													16	122					3.41278e-10	4.58782e-10	0.004990	1	0
PCLO	27445	broad.mit.edu	37	7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:82764221C>A	ENST00000423517.2	-	3	2982	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	PCLO_ENST00000333891.8_Missense_Mutation_p.R882L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(2)|p.R828L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGCGGTAGGTCGTGGGCCAGG	0.517000													164	341					7.17302e-81	1.34115e-80	0.003610	1	0
CPXCR1	53336	broad.mit.edu	37	X	88009303	88009303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:88009303C>G	ENST00000276127.4	+	3	1147	c.888C>G	c.(886-888)tgC>tgG	p.C296W	CPXCR1_ENST00000373111.1_Missense_Mutation_p.C296W	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	296						intracellular	zinc ion binding	p.C296W(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AACATTCATGCAGCTCTTCTG	0.294000													5	18					0	0	0.001984	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197321	9197321	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:9197321A>T	ENST00000382496.5	-	10	1692	c.1027T>A	c.(1027-1029)Tcg>Acg	p.S343T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.S343T(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGCCAGGCCGAGCGCGAGTTT	0.587000													17	133					0	0	0.006122	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320796	27320796	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:27320796C>A	ENST00000407991.1	-	6	1772	c.1164G>T	c.(1162-1164)gaG>gaT	p.E388D	CHRNA2_ENST00000240132.2_Missense_Mutation_p.E373D|CHRNA2_ENST00000520933.2_Missense_Mutation_p.E388D	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	388						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E388D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GGTGGCAGAGCTCCACGGGTG	0.677000													13	63					9.31168e-06	1.11184e-05	0.001855	1	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	67					0	0	0.001168	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420354	69420354	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:69420354T>A	ENST00000357336.3	+	13	1525	c.1244T>A	c.(1243-1245)tTa>tAa	p.L415*		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	415								p.L415*(1)		breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GCTGGCAGATTAACCCAACAA	0.343000													9	153					0	0	0.002450	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487775	161487775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:161487775G>T	ENST00000271450.6	+	7	829	c.791G>T	c.(790-792)cGt>cTt	p.R264L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.R263L|FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000461298.1_5'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	264						integral to membrane|plasma membrane	IgG binding|receptor activity	p.R263L(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ccacctggacgtcaaatgatt	0.433000													21	54					5.26018e-13	8.06673e-13	0.001882	1	0
AGAP7	653268	broad.mit.edu	37	10	51464849	51464849	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:51464849G>T	ENST00000374095.5	-	7	1732	c.1607C>A	c.(1606-1608)aCg>aAg	p.T536K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	536	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T536K(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTCTTCCCTCGTGGACTTTTC	0.552000													100	141					1.07597e-44	1.99408e-44	0.003610	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24959146	24959146	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:24959146C>A	ENST00000396432.2	-	3	730		c.e3+1			NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21						signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTCTCTTACCTTATATGAA	0.368000													13	33					5.50884e-06	6.6106e-06	0.001368	1	0
GABPB2	126626	broad.mit.edu	37	1	151079676	151079676	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:151079676A>C	ENST00000368918.3	+	7	1231	c.900A>C	c.(898-900)gtA>gtC	p.V300V	GABPB2_ENST00000368917.1_Silent_p.V262V|GABPB2_ENST00000368916.1_Silent_p.V262V|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	300					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding	p.V300V(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CATTTATTGTAACTGTGCAAG	0.413000													11	47					0	0	0.001855	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999000	72999000	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:72999000G>T	ENST00000322038.5	+	2	2087	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	TSHZ1_ENST00000580243.1_Missense_Mutation_p.K546N	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	546						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K501N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACAGCCCCAAGGGAGGGCTGG	0.587000													12	133					7.03913e-09	9.3855e-09	0.001368	1	0
C1orf27	54953	broad.mit.edu	37	1	186367533	186367533	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:186367533A>G	ENST00000367470.3	+	9	1036	c.800A>G	c.(799-801)tAt>tGt	p.Y267C	C1orf27_ENST00000432021.3_Missense_Mutation_p.Y267C|C1orf27_ENST00000419367.3_Missense_Mutation_p.Y258C|C1orf27_ENST00000287859.6_Missense_Mutation_p.Y290C	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	290						integral to membrane	oxidoreductase activity|zinc ion binding	p.Y290C(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TGCAGAGCTTATATCCACAGC	0.398000													53	101					0	0	0.003610	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962798	55962798	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:55962798C>A	ENST00000577830.1	-	2	541	c.128G>T	c.(127-129)cGc>cTc	p.R43L	CUEDC1_ENST00000407144.2_Missense_Mutation_p.R43L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.R43L|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	43								p.R43L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CTCCAGGCGGCGCACCTGGCG	0.701000													30	37					3.80469e-20	6.66516e-20	0.009535	1	0
SLC39A6	25800	broad.mit.edu	37	18	33706670	33706670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:33706670C>A	ENST00000269187.5	-	2	514	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.D101Y	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	101	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.D101Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						tgctcgtggtctgagtgatgg	0.418000													7	42					8.12818e-05	9.31152e-05	0.001984	1	0
LRP4	4038	broad.mit.edu	37	11	46905469	46905469	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:46905469C>A	ENST00000378623.1	-	19	2807	c.2565G>T	c.(2563-2565)tgG>tgT	p.W855C		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	855					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.W855C(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAAGGTTCTCCCAGATGAGTA	0.517000													19	90					1.55469e-16	2.64629e-16	0.003330	1	0
FMO4	2329	broad.mit.edu	37	1	171300844	171300844	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:171300844G>T	ENST00000367749.3	+	6	880	c.550G>T	c.(550-552)Ggc>Tgc	p.G184C	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	184					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.G184C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGGCTTTCAGGGCAAACGCGT	0.458000													31	172					1.13719e-10	1.61018e-10	0.008361	1	0
GPATCH1	55094	broad.mit.edu	37	19	33602647	33602647	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:33602647C>T	ENST00000170564.2	+	12	1917	c.1603C>T	c.(1603-1605)Ctg>Ttg	p.L535L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	535						catalytic step 2 spliceosome	nucleic acid binding	p.L535L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGAACGCTGTCTGGACCCCAG	0.582000													17	106					0	0	0.008871	0	0
KIAA1009	22832	broad.mit.edu	37	6	84930830	84930830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:84930830C>T	ENST00000403245.3	-	3	231	c.117G>A	c.(115-117)atG>atA	p.M39I	KIAA1009_ENST00000257766.4_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	39					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.M39I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTTTCTTCTTCATCTCTTTTT	0.303000													20	120					0	0	0.001882	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744130	31744130	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr21:31744130G>T	ENST00000399889.2	-	1	427	c.402C>A	c.(400-402)agC>agA	p.S134R		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	134						intermediate filament		p.S134R(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GGAAGCCACAGCTTCCATAAC	0.577000													14	33					1.02788e-11	1.50882e-11	0.004990	1	0
KHDC3L	154288	broad.mit.edu	37	6	74072850	74072850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:74072850G>T	ENST00000370367.3	+	2	255	c.202G>T	c.(202-204)Ggt>Tgt	p.G68C		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member									p.G68C(1)									GCACGTCCAGGGTATGTCCCA	0.597000													17	79					2.5808e-16	4.34661e-16	0.006122	1	0
WBP11	51729	broad.mit.edu	37	12	14940012	14940012	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:14940012T>C	ENST00000261167.2	-	12	2146	c.1913A>G	c.(1912-1914)gAa>gGa	p.E638G	WBP11_ENST00000537574.1_Missense_Mutation_p.E604G	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	638					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.E638G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CAGTAGCCCTTCCATCTCTTT	0.458000													4	37					0	0	0.009096	0	0
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:57137380C>G	ENST00000263314.2	+	12	1138	c.1104C>G	c.(1102-1104)atC>atG	p.I368M		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547000													5	15					0	0	0.000602	0	0
C9orf171	389799	broad.mit.edu	37	9	135374960	135374960	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:135374960C>T	ENST00000343036.2	+	4	653	c.605C>T	c.(604-606)cCa>cTa	p.P202L	C9orf171_ENST00000393216.2_Missense_Mutation_p.P166L|C9orf171_ENST00000393215.3_Missense_Mutation_p.P166L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	202								p.P202L(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCTCTCCCTCCAAACATGACA	0.597000													18	55					0	0	0.001882	0	0
IFT88	8100	broad.mit.edu	37	13	21217673	21217673	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr13:21217673G>T	ENST00000382778.4	+	20	2907	c.1789G>T	c.(1789-1791)Gtt>Ttt	p.V597F	IFT88_ENST00000351808.5_Missense_Mutation_p.V588F|IFT88_ENST00000319980.6_Missense_Mutation_p.V597F|IFT88_ENST00000537103.1_Missense_Mutation_p.V569F			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	597					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.V597F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CGATCCTCAAGTTTTATCTAA	0.353000													15	40					0.000219431	0.000246091	0.002450	1	0
PGK2	5232	broad.mit.edu	37	6	49754263	49754263	+	Missense_Mutation	SNP	C	C	A	rs137962561		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:49754263C>A	ENST00000304801.3	-	1	790	c.638G>T	c.(637-639)gGt>gTt	p.G213V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	213					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.G213V(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGGCTCCACCAAGTATAGC	0.418000													12	130					0.000978159	0.00106708	0.000978	1	0
SPECC1L	23384	broad.mit.edu	37	22	24718090	24718090	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:24718090G>T	ENST00000314328.9	+	5	1427	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.R381L|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.R381L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R381L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	381					cell cycle|cell division			p.R381L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GAGCGCTCCCGGAAGGGGAGC	0.577000													5	37					0.000602214	0.000659961	0.000602	1	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000													4	94					0	0	0.001984	0	0
TMPO	7112	broad.mit.edu	37	12	98938261	98938261	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:98938261T>A	ENST00000556029.1	+	6	1181	c.825T>A	c.(823-825)atT>atA	p.I275I	TMPO_ENST00000343315.5_Silent_p.I235I|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	275	Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.I275I(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCCAGTAATTTCAGAGAGTA	0.294000													7	45					0	0	0.003080	0	0
BTN3A2	11118	broad.mit.edu	37	6	26373142	26373142	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:26373142G>T	ENST00000356386.2	+	6	921	c.733G>T	c.(733-735)Gcc>Tcc	p.A245S	BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A245S|BTN3A2_ENST00000396934.3_Missense_Mutation_p.A222S|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A245S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A245S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A203S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	245						integral to membrane		p.A245S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CTTCAGGAGCGCCCAGCCCTG	0.612000													77	76					1.7488e-33	3.21618e-33	0.003610	1	0
PRSS55	203074	broad.mit.edu	37	8	10383193	10383193	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:10383193G>A	ENST00000328655.3	+	1	138	c.98G>A	c.(97-99)gGc>gAc	p.G33D	PRSS55_ENST00000522210.1_Missense_Mutation_p.G33D|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	33					proteolysis	integral to membrane	serine-type endopeptidase activity	p.G33D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GCTATCCTAGGCAGGGCTAGG	0.652000													8	19					0	0	0.004482	0	0
PLCXD3	345557	broad.mit.edu	37	5	41381998	41381998	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:41381998C>A	ENST00000377801.3	-	2	816	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V248L			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	248					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.V248L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGTCAGCACCACCTGAGAT	0.483000													32	117					9.65963e-10	1.31722e-09	0.003271	1	0
CFB	629	broad.mit.edu	37	6	31911043	31911043	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:31911043A>C	ENST00000456570.1	+	8	998	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	C2_ENST00000452323.2_Missense_Mutation_p.M254L|C2_ENST00000469372.1_Missense_Mutation_p.M222L|CFB_ENST00000556679.1_Missense_Mutation_p.M315L|C2_ENST00000299367.5_Missense_Mutation_p.M468L|CFB_ENST00000477310.1_Missense_Mutation_p.M239L|C2_ENST00000442278.2_Missense_Mutation_p.M336L			P00751	CFAB_HUMAN	complement factor B	483	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.M468L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGTGGGGAACATGTCAGCAAA	0.572000													12	55					0	0	0.001368	0	0
ZNF681	148213	broad.mit.edu	37	19	23927160	23927160	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:23927160C>T	ENST00000402377.3	-	4	1333	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E329K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E398K(1)|p.E329K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTGCCACATTCTTCACATTTG	0.413000													17	68					0	0	0.007413	0	0
OR5D16	390144	broad.mit.edu	37	11	55606872	55606872	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:55606872C>A	ENST00000378396.1	+	1	645	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I215I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CACTACTCATCATTCTGACAT	0.463000													33	100					1.74807e-11	2.54265e-11	0.002096	1	0
MGAT5B	146664	broad.mit.edu	37	17	74900403	74900403	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:74900403T>C	ENST00000569840.2	+	6	1163	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.F208L|MGAT5B_ENST00000301618.4_Missense_Mutation_p.F197L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	197						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.F197L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGTGCTCCTTCCTCATCTA	0.667000													4	18					0	0	0.009096	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471176	123471176	+	Splice_Site	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:123471176C>T	ENST00000529750.1	+	7	868	c.540_splice	c.e7-1	p.H181_splice	GRAMD1B_ENST00000322282.7_Splice_Site_p.H181_splice|GRAMD1B_ENST00000456860.2_Splice_Site_p.H188_splice	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	181						integral to membrane		p.H181Y(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCCAATCTAGCACTTCTTCAC	0.408000													8	38					0	0	0.004482	0	0
MST1R	4486	broad.mit.edu	37	3	49935561	49935561	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:49935561C>A	ENST00000296474.3	-	5	1830	c.1803G>T	c.(1801-1803)ctG>ctT	p.L601L	MST1R_ENST00000344206.4_Silent_p.L601L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	601	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.L601L(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTCAGGCACCAGACCAGAAG	0.582000													17	45					3.99206e-14	6.34499e-14	0.007413	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132201	59132201	+	Missense_Mutation	SNP	G	G	T	rs145916059	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:59132201G>T	ENST00000313940.2	+	1	317	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q90H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGAACAGCAAACTATCA	0.418000													35	177					4.34311e-12	6.43423e-12	0.003271	1	0
MAP7D3	79649	broad.mit.edu	37	X	135301625	135301625	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:135301625G>A	ENST00000316077.9	-	18	2815	c.2595C>T	c.(2593-2595)gaC>gaT	p.D865D	MAP7D3_ENST00000370661.1_Silent_p.D830D|MAP7D3_ENST00000370663.5_Silent_p.D847D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	865						cytoplasm|spindle		p.D1162D(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGGCAAGATGTCATGGAATC	0.388000													7	53					0	0	0.003080	0	0
SYNE1	23345	broad.mit.edu	37	6	152443811	152443811	+	Splice_Site	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:152443811C>T	ENST00000367255.5	-	146	26755	c.26153_splice	c.e146-1	p.R8718_splice	SYNE1_ENST00000354674.4_Splice_Site_p.R896_splice|SYNE1_ENST00000356820.4_Splice_Site_p.R3242_splice|SYNE1_ENST00000341594.5_Splice_Site_p.R8330_splice|SYNE1_ENST00000423061.1_Splice_Site_p.R8670_splice|SYNE1_ENST00000448038.1_Splice_Site_p.R8670_splice|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Splice_Site_p.R8718_splice|SYNE1_ENST00000539504.1_Splice_Site_p.R873_splice|ESR1_ENST00000544394.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8718	Ser-rich.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R8718R(2)|p.R8670R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTTGTGGACCTGAGAGAAG	0.562000										HNSCC(10;0.0054)			13	95					0	0	0.001855	0	0
KLC2	64837	broad.mit.edu	37	11	66033336	66033336	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:66033336C>T	ENST00000394065.2	+	11	2056	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	KLC2_ENST00000421552.1_Silent_p.P408P|KLC2_ENST00000417856.1_Silent_p.P485P|KLC2_ENST00000394067.2_Silent_p.P485P|KLC2_ENST00000394066.2_Silent_p.P408P|KLC2_ENST00000316924.5_Silent_p.P485P|KLC2_ENST00000394078.1_Intron			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	485					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.P485P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTTTGGACCCCGCAAGCCAGA	0.672000													6	50					0	0	0.003080	0	0
AFMID	125061	broad.mit.edu	37	17	76203015	76203015	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:76203015G>T	ENST00000409257.5	+	11	963	c.909G>T	c.(907-909)caG>caT	p.Q303H	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.Q308H|AFMID_ENST00000591952.1_Missense_Mutation_p.V60L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	303						cytosol|nucleus	arylformamidase activity	p.Q308H(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAATCTTCCAGTAGTTCTGAC	0.478000													35	122					3.03874e-20	5.34284e-20	0.003271	1	0
NLRP7	199713	broad.mit.edu	37	19	55445881	55445881	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:55445881G>T	ENST00000446217.1	-	9	2933	c.2531C>A	c.(2530-2532)cCa>cAa	p.P844Q	NLRP7_ENST00000448121.2_Missense_Mutation_p.P788Q|NLRP7_ENST00000328092.5_Missense_Mutation_p.P788Q|NLRP7_ENST00000588756.1_Missense_Mutation_p.P816Q|NLRP7_ENST00000340844.2_Missense_Mutation_p.P816Q|NLRP7_ENST00000590030.1_Missense_Mutation_p.P816Q|NLRP7_ENST00000592784.1_Missense_Mutation_p.P816Q			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	816							ATP binding	p.P788Q(2)|p.P816Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAAGTGTTTTGGGCGTGTCAT	0.512000													27	80					6.32553e-13	9.6389e-13	0.004656	1	0
SH2D3C	10044	broad.mit.edu	37	9	130536632	130536632	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:130536632T>A	ENST00000314830.8	-	2	265	c.152A>T	c.(151-153)gAa>gTa	p.E51V		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	51					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.E51V(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGCGTGGCTTCAAAGGTGTC	0.592000													16	49					0	0	0.004990	0	0
OR10A5	144124	broad.mit.edu	37	11	6866978	6866978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:6866978C>T	ENST00000299454.4	+	1	96	c.65C>T	c.(64-66)aCt>aTt	p.T22I	OR10A5_ENST00000379831.2_Missense_Mutation_p.T26I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T22I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCCTACCTACTGAAATACAG	0.433000													69	232					0	0	0.003610	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190676	50190676	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:50190676G>A	ENST00000335999.6	-	8	1168	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	319	Pro-rich.							p.R323C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AACTGTCTGCGGGCCAGGGCA	0.652000													7	11					0	0	0.003080	0	0
LONRF1	91694	broad.mit.edu	37	8	12586807	12586807	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:12586807T>C	ENST00000398246.3	-	9	1792	c.1723A>G	c.(1723-1725)Atg>Gtg	p.M575V	LONRF1_ENST00000533751.1_Missense_Mutation_p.M218V|LONRF1_ENST00000525024.1_Start_Codon_SNP_p.M1V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	575	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.M575V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGGTAGGCCATAGTGCAAACA	0.368000													12	44					0	0	0.001855	0	0
CCDC141	285025	broad.mit.edu	37	2	179701637	179701637	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:179701637C>A	ENST00000420890.2	-	23	4426	c.4309G>T	c.(4309-4311)Gag>Tag	p.E1437*	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E862*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	862							protein binding	p.E1437*(1)|p.E862*(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTGTAGGCTCTGGAAATCCT	0.428000													15	55					2.23348e-06	2.721e-06	0.004007	1	0
MYH8	4626	broad.mit.edu	37	17	10299915	10299915	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:10299915G>A	ENST00000403437.2	-	32	4577	c.4483C>T	c.(4483-4485)Ctg>Ttg	p.L1495L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1495					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.L1495L(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTGATCCAGGGATTCCTCA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	37					0	0	0.006122	0	0
ANO1	55107	broad.mit.edu	37	11	69933978	69933978	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:69933978C>A	ENST00000355303.5	+	2	534	c.229C>A	c.(229-231)Cgg>Agg	p.R77R	ANO1_ENST00000538023.1_Silent_p.R77R|ANO1_ENST00000316296.5_Silent_p.R49R|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000530676.1_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	77					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	p.R77R(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTCGGGCAACCGGACCCTGGT	0.667000													5	24					0.000602214	0.000659961	0.000602	1	0
PCDHGA4	56111	broad.mit.edu	37	5	140736646	140736646	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:140736646C>G	ENST00000571252.1	+	1	1879	c.1879C>G	c.(1879-1881)Cgc>Ggc	p.R627G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGAGGTGCGCACCGCACG	0.632000													13	23					0	0	0.002450	0	0
PAK7	57144	broad.mit.edu	37	20	9543572	9543572	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:9543572C>T	ENST00000378429.3	-	7	2128	c.1582G>A	c.(1582-1584)Ggt>Agt	p.G528S	PAK7_ENST00000378423.1_Missense_Mutation_p.G528S|PAK7_ENST00000353224.5_Missense_Mutation_p.G528S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	528	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.G528S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGGCACCACCTTCTAGAAAC	0.488000													35	138					0	0	0.005524	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884010	19884010	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:19884010G>T	ENST00000300571.2	-	2	349	c.158C>A	c.(157-159)gCc>gAc	p.A53D	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A53D|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A53D|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A79D|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A53D	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	53								p.A53D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCCAGATGGCGTCCAGGTC	0.647000													17	23					3.57192e-18	6.1233e-18	0.006122	1	0
ITPKA	3706	broad.mit.edu	37	15	41794614	41794614	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:41794614C>T	ENST00000260386.5	+	5	1076	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	341					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.S341S(1)		kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGGACGGCTCCTGCAGCACCG	0.612000													14	37					0	0	0.003163	0	0
DTWD1	56986	broad.mit.edu	37	15	49917565	49917565	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:49917565C>T	ENST00000251250.6	+	3	408	c.201C>T	c.(199-201)ttC>ttT	p.F67F	DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Silent_p.F67F|DTWD1_ENST00000558653.1_Silent_p.F67F|DTWD1_ENST00000329873.5_Silent_p.F67F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	67								p.F67F(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CCAGAATGTTCTACTGCTATA	0.338000													6	31					0	0	0.001168	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555761	145555761	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:145555761G>T	ENST00000355594.4	+	2	196	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ANKRD35_ENST00000544626.1_Missense_Mutation_p.A37S	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	37								p.A37S(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGACGCGTGGCTGCCCTGGC	0.602000													24	47					3.85864e-22	6.911e-22	0.002780	1	0
MYOZ2	51778	broad.mit.edu	37	4	120085547	120085547	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:120085547C>G	ENST00000307128.5	+	5	771	c.558C>G	c.(556-558)aaC>aaG	p.N186K		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	186				N -> T (in Ref. 1; AAG13932).			protein phosphatase 2B binding	p.N186K(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGAGCTTTAACAGGTAATTCA	0.393000													9	23					0	0	0.008291	0	0
FSCB	84075	broad.mit.edu	37	14	44974010	44974010	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:44974010C>A	ENST00000340446.4	-	1	2472	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	727						cilium		p.E727D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGGAAACTCCTCAGTCAGAA	0.507000													8	51					0.00307968	0.0033219	0.003080	1	0
RXFP1	59350	broad.mit.edu	37	4	159568063	159568063	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:159568063G>C	ENST00000307765.5	+	16	1717	c.1466G>C	c.(1465-1467)gGa>gCa	p.G489A	RXFP1_ENST00000470033.1_Missense_Mutation_p.G456A|RXFP1_ENST00000460056.2_Missense_Mutation_p.G408A|RXFP1_ENST00000343542.5_Missense_Mutation_p.G441A|RXFP1_ENST00000448688.2_Missense_Mutation_p.G384A	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	489						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.G489A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CAGCTTGTAGGATCTTTGGCC	0.388000													18	66					0	0	0.007413	0	0
RIOK2	55781	broad.mit.edu	37	5	96503332	96503332	+	Silent	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:96503332A>G	ENST00000283109.3	-	8	1304	c.1236T>C	c.(1234-1236)tcT>tcC	p.S412S	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Silent_p.S412S	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	412	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.S412S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ATTCAGTTACAGAGTTGTTTT	0.403000													26	74					0	0	0.004656	0	0
LTBP1	4052	broad.mit.edu	37	2	33572548	33572548	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:33572548C>T	ENST00000404816.2	+	26	4324	c.3971C>T	c.(3970-3972)aCt>aTt	p.T1324I	LTBP1_ENST00000390003.4_Missense_Mutation_p.T999I|LTBP1_ENST00000272273.5_Missense_Mutation_p.T222I|LTBP1_ENST00000404525.1_Missense_Mutation_p.T945I|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1325I|LTBP1_ENST00000402934.1_Missense_Mutation_p.T945I|LTBP1_ENST00000407925.1_Missense_Mutation_p.T998I|LTBP1_ENST00000418533.2_Missense_Mutation_p.T956I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1324	EGF-like 14; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.T1325I(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCATGACTGGGCAGTGC	0.567000													10	84					0	0	0.000978	0	0
CD226	10666	broad.mit.edu	37	18	67563049	67563049	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:67563049G>T	ENST00000280200.4	-	4	883	c.615C>A	c.(613-615)agC>agA	p.S205R	CD226_ENST00000582621.1_Missense_Mutation_p.S205R|CD226_ENST00000577287.1_Missense_Mutation_p.S50R|CD226_ENST00000581982.1_Missense_Mutation_p.S50R	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	205	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.S205_V206>RI(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGACGATGACGCTCCACCTTC	0.512000													25	155					2.79863e-10	3.89375e-10	0.004656	1	0
LAMA2	3908	broad.mit.edu	37	6	129714272	129714272	+	Silent	SNP	C	C	A	rs138695453	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:129714272C>A	ENST00000421865.2	+	37	5366	c.5317C>A	c.(5317-5319)Cgg>Agg	p.R1773R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1773	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1773R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAAGGATCTCCGGGAAAAACT	0.463000													8	43					1.06961e-07	1.37277e-07	0.003080	1	0
MN1	4330	broad.mit.edu	37	22	28193500	28193500	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:28193500C>A	ENST00000302326.4	-	1	3986	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1011							binding	p.G1011V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCCCCCTTCCCCCAGGATGG	0.687000			T	ETV6	"""AML, meningioma"""								5	27					0.000602214	0.000659961	0.000602	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77317919	77317919	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:77317919C>T	ENST00000282849.5	-	23	4018	c.3600G>A	c.(3598-3600)caG>caA	p.Q1200Q	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1200	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1200Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGACACCATGCTGAGGAACTA	0.448000													12	111					0	0	0.001368	0	0
SCN2A	6326	broad.mit.edu	37	2	166179948	166179948	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:166179948G>T	ENST00000375437.2	+	12	2244	c.1954G>T	c.(1954-1956)Ggt>Tgt	p.G652C	SCN2A_ENST00000357398.3_Missense_Mutation_p.G652C|SCN2A_ENST00000283256.6_Missense_Mutation_p.G652C|SCN2A_ENST00000375427.2_Missense_Mutation_p.G652C	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	652					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G652C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGACTGCAATGGTGTGGTCTC	0.587000													6	21					1.12685e-05	1.33883e-05	0.004482	1	0
RYR2	6262	broad.mit.edu	37	1	237777447	237777447	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:237777447C>A	ENST00000366574.2	+	37	5336	c.5019C>A	c.(5017-5019)gcC>gcA	p.A1673A	RYR2_ENST00000360064.6_Silent_p.A1671A|RYR2_ENST00000542537.1_Silent_p.A1657A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1673	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1671A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGGGTGGCCCATGCCCTGT	0.527000													15	50					1.5739e-10	2.21546e-10	0.004007	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176338	142176338	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:142176338C>A	ENST00000390369.2	-	0	337																											GGCTAAGCTGCTGGCACAGAG	0.562000													12	52					3.07112e-06	3.72257e-06	0.000978	1	0
FFAR3	2865	broad.mit.edu	37	19	35850707	35850707	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:35850707C>G	ENST00000327809.4	+	2	1116	c.915C>G	c.(913-915)agC>agG	p.S305R	FFAR3_ENST00000594310.1_Missense_Mutation_p.S305R	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	305						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.S305R(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AGCAGGAGAGCAGCATGGAGC	0.587000													8	45					0	0	0.004007	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407065	105407065	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:105407065C>T	ENST00000333244.5	-	7	14842	c.14723G>A	c.(14722-14724)aGc>aAc	p.S4908N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4908						nucleus		p.S4908N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTGGGTGCTTGGCAAGGG	0.602000													10	59					0	0	0.008291	0	0
AP1M2	10053	broad.mit.edu	37	19	10692296	10692296	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:10692296T>C	ENST00000590923.1	-	5	496	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	AP1M2_ENST00000250244.6_Missense_Mutation_p.Q138R			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	138					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.Q138R(1)		endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CTTGTTGCTCTGCTGAGTGAT	0.607000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11					0	0	0.001168	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973916	120973916	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:120973916T>C	ENST00000273666.6	+	16	1887	c.1616T>C	c.(1615-1617)aTa>aCa	p.I539T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I539T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I539T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	539					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.I539T(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCATATGTCATAATTTATAAA	0.313000													6	51					0	0	0.001984	0	0
SETX	23064	broad.mit.edu	37	9	135173664	135173664	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:135173664G>C	ENST00000372169.2	-	13	5766	c.5584C>G	c.(5584-5586)Cag>Gag	p.Q1862E	SETX_ENST00000224140.5_Missense_Mutation_p.Q1862E|SETX_ENST00000393220.1_Missense_Mutation_p.Q1862E			Q7Z333	SETX_HUMAN	senataxin	1862					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.Q1862E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTTGAGTCTGGATGGAAAGG	0.383000													14	54					0	0	0.002450	0	0
PKD1L2	114780	broad.mit.edu	37	16	81171057	81171057	+	RNA	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:81171057G>A	ENST00000525539.1	-	0	5703				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCAACAGATGTCCTGGCAGC	0.597000													3	11					0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158614124	158614124	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:158614124C>A	ENST00000368148.3	-	30	4437	c.4257G>T	c.(4255-4257)agG>agT	p.R1419S	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1419S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1419					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.R1419S(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)					TGTCATCTGACCTCAGGGAAT	0.453000													20	93					1.96292e-10	2.74695e-10	0.010504	1	0
ZFHX3	463	broad.mit.edu	37	16	72829024	72829024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:72829024C>A	ENST00000268489.5	-	9	8229	c.7557G>T	c.(7555-7557)caG>caT	p.Q2519H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1605H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2519					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q2519H(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTTGCGAGCTGTTGAGGAG	0.587000													21	90					2.39556e-15	3.95145e-15	0.002780	1	0
SLC17A6	57084	broad.mit.edu	37	11	22364896	22364896	+	Missense_Mutation	SNP	G	G	T	rs138598101		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:22364896G>T	ENST00000263160.3	+	3	880	c.443G>T	c.(442-444)cGg>cTg	p.R148L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	148					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.R148L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCGCGTCTCGGCTGGCAGCC	0.597000													26	87					3.28513e-13	5.08665e-13	0.003954	1	0
ZNF132	7691	broad.mit.edu	37	19	58945489	58945489	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:58945489T>C	ENST00000254166.3	-	3	1722	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N441S(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAGTTATTGTTAAAAGCTCT	0.478000													33	105					0	0	0.002445	0	0
RBP3	5949	broad.mit.edu	37	10	48389678	48389678	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:48389678C>A	ENST00000224600.4	-	1	1313	c.1200G>T	c.(1198-1200)gcG>gcT	p.A400A		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A400A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCGTCGGGCGCGGGCCAAG	0.647000													13	38					6.81908e-15	1.1058e-14	0.002450	1	0
HAPLN4	404037	broad.mit.edu	37	19	19371853	19371853	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:19371853T>A	ENST00000291481.7	-	3	316	c.253A>T	c.(253-255)Aag>Tag	p.K85*	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	85	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.K85*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			TTTGTCCACTTGAGCCGGACG	0.677000													11	38					0	0	0.002450	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504561	66504561	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:66504561T>C	ENST00000360242.5	+	2	678	c.561T>C	c.(559-561)taT>taC	p.Y187Y	CCDC102B_ENST00000584156.1_Silent_p.Y187Y|CCDC102B_ENST00000358653.5_Silent_p.Y187Y|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Silent_p.Y187Y	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	187								p.Y187Y(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCAGAGAGTATTTGGTAAAAA	0.358000													67	133					0	0	0.003610	0	0
CD86	942	broad.mit.edu	37	3	121822487	121822487	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:121822487C>A	ENST00000330540.2	+	3	309	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.L59M|CD86_ENST00000483949.1_3'UTR	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	65	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.L65M(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAACTTGGTTCTGAATGAGGT	0.433000													33	74					3.90053e-15	6.38994e-15	0.002445	1	0
ANK1	286	broad.mit.edu	37	8	41571699	41571699	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:41571699C>G	ENST00000396942.1	-	16	1858	c.1775G>C	c.(1774-1776)gGc>gCc	p.G592A	ANK1_ENST00000265709.8_Missense_Mutation_p.G625A|ANK1_ENST00000396945.1_Missense_Mutation_p.G592A|ANK1_ENST00000289734.7_Missense_Mutation_p.G592A|ANK1_ENST00000352337.4_Missense_Mutation_p.G592A|ANK1_ENST00000347528.4_Missense_Mutation_p.G592A|ANK1_ENST00000379758.2_Missense_Mutation_p.G592A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	592	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.G592A(1)|p.G625A(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGGGGAGCCGCCCCGGGGAAG	0.667000													7	33					0	0	0.004482	0	0
SSPO	23145	broad.mit.edu	37	7	149485870	149485870	+	RNA	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:149485870G>T	ENST00000378016.2	+	0	4089							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATTGTGGGGGTGACGGTG	0.627000													17	37					2.35188e-11	3.40031e-11	0.006122	1	0
BCLAF1	9774	broad.mit.edu	37	6	136599263	136599263	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:136599263G>T	ENST00000531224.1	-	4	1008	c.756C>A	c.(754-756)caC>caA	p.H252Q	BCLAF1_ENST00000353331.4_Missense_Mutation_p.H250Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H250Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H250Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H252Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H252Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	252					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.H252Q(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTTGCAGAGTGAACTGTAC	0.443000													11	129					0.000151284	0.000171265	0.001855	1	0
CPNE7	27132	broad.mit.edu	37	16	89661869	89661869	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:89661869C>G	ENST00000268720.5	+	16	1752	c.1622C>G	c.(1621-1623)tCc>tGc	p.S541C	CPNE7_ENST00000319518.8_Missense_Mutation_p.S466C|CPNE7_ENST00000566398.1_3'UTR	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	541	VWFA.				lipid metabolic process		transporter activity	p.S541C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CTGCCCATGTCCATCATCATC	0.667000													9	34					0	0	0.006214	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43823527	43823527	+	Splice_Site	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:43823527T>C	ENST00000389420.3	-	24	3381	c.3381_splice	c.e24-1	p.S1128_splice	ADAMTS20_ENST00000553158.1_Splice_Site_p.S1128_splice|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1128	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding	p.S1128G(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTACACAGCTCTGTTCAGAA	0.348000													2	7					0	0	0.004672	0	0
CHRM3	1131	broad.mit.edu	37	1	240072216	240072216	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:240072216G>T	ENST00000255380.4	+	5	2244	c.1465G>T	c.(1465-1467)Gcg>Tcg	p.A489S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	489					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A489S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGAGAAGAAAGCGGCCCAGAC	0.507000													37	88					3.6622e-26	6.68386e-26	0.003755	1	0
NDUFS1	4719	broad.mit.edu	37	2	206992579	206992579	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:206992579G>T	ENST00000233190.5	-	16	2092	c.1826C>A	c.(1825-1827)gCa>gAa	p.A609E	NDUFS1_ENST00000440274.1_Missense_Mutation_p.A573E|NDUFS1_ENST00000432169.1_Missense_Mutation_p.A498E|NDUFS1_ENST00000423725.1_Missense_Mutation_p.A552E|NDUFS1_ENST00000455934.2_Missense_Mutation_p.A623E|NDUFS1_ENST00000457011.1_Missense_Mutation_p.A493E|NDUFS1_ENST00000449699.1_Missense_Mutation_p.A609E	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	609					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.A609E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AGGTGTCACTGCTACCTTAGT	0.458000													14	125					3.27435e-08	4.24781e-08	0.002450	1	0
DNAH11	8701	broad.mit.edu	37	7	21840846	21840846	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:21840846A>G	ENST00000328843.6	+	63	10170	c.10139A>G	c.(10138-10140)aAc>aGc	p.N3380S	DNAH11_ENST00000409508.3_Missense_Mutation_p.N3373S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3380	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3380S(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCAAACCAACAAAACCATC	0.408000									Kartagener syndrome				3	29					0	0	0.004672	0	0
CHML	1122	broad.mit.edu	37	1	241798123	241798123	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:241798123C>T	ENST00000366553.1	-	1	1109	c.946G>A	c.(946-948)Gct>Act	p.A316T	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	316					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.A316T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCCTGAAAGCTTGGTATTCA	0.343000													30	115					0	0	0.008361	0	0
GPR124	25960	broad.mit.edu	37	8	37691586	37691586	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:37691586G>T	ENST00000315215.7	+	11	1911	c.1548G>T	c.(1546-1548)gtG>gtT	p.V516V	GPR124_ENST00000412232.2_Silent_p.V516V			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	516					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V509V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCGCATCGTGGGTGCCCTGG	0.667000													14	58					7.93312e-07	9.81417e-07	0.002450	1	0
MAGEF1	64110	broad.mit.edu	37	3	184428789	184428789	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:184428789C>G	ENST00000317897.3	-	1	1047	c.821G>C	c.(820-822)cGt>cCt	p.R274P		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	274	MAGE.							p.R274P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TAGGGCCTCACGGTACTGCAC	0.622000													8	46					0	0	0.003080	0	0
SYT10	341359	broad.mit.edu	37	12	33532767	33532767	+	Splice_Site	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:33532767C>G	ENST00000228567.3	-	6	1796	c.1500_splice	c.e6+1	p.E500_splice	SYT10_ENST00000535526.1_Splice_Site_p.E319_splice	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	500						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.E500D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACAAGCTTACCTCCAGCAATG	0.423000													18	77					0	0	0.001882	0	0
CNTN3	5067	broad.mit.edu	37	3	74384005	74384005	+	Missense_Mutation	SNP	C	C	A	rs142080236		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:74384005C>A	ENST00000263665.6	-	12	1576	c.1549G>T	c.(1549-1551)Gtc>Ttc	p.V517F		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	517	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V517F(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGCAATATGACGCTTTCACCA	0.393000													16	28					4.14922e-12	6.20444e-12	0.004007	1	0
GPR21	2844	broad.mit.edu	37	9	125797553	125797553	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:125797553T>A	ENST00000373642.1	+	1	748	c.708T>A	c.(706-708)agT>agA	p.S236R	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	236						integral to plasma membrane	G-protein coupled receptor activity	p.S236R(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GCAGCCAGAGTGGGGAGACTG	0.498000													55	141					0	0	0.003610	0	0
TBRG4	9238	broad.mit.edu	37	7	45141438	45141438	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:45141438T>C	ENST00000258770.3	-	8	1674	c.1553A>G	c.(1552-1554)tAt>tGt	p.Y518C	TBRG4_ENST00000361278.3_Missense_Mutation_p.Y408C|TBRG4_ENST00000395655.4_Missense_Mutation_p.Y408C|TBRG4_ENST00000494076.1_Missense_Mutation_p.Y518C	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	518					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.Y518C(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACCCAGCCATACTGCGTGGC	0.642000													5	70					0	0	0.001984	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540564	94540564	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:94540564G>A	ENST00000289495.5	+	1	1355	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G380E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G380E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G380E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	380						cell junction|synapse|synaptosome	actin binding	p.G380E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCCAGTTGTGGAAAAGAAGTA	0.428000										HNSCC(28;0.073)			7	54					0	0	0.001984	0	0
IMPG1	3617	broad.mit.edu	37	6	76660393	76660393	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:76660393G>T	ENST00000369950.3	-	13	1899	c.1710C>A	c.(1708-1710)ggC>ggA	p.G570G	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G570G(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAGCTCTCGGCCCTTGGGGG	0.498000													13	53					2.31682e-05	2.70578e-05	0.003163	1	0
TOR1A	1861	broad.mit.edu	37	9	132586260	132586260	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:132586260G>A	ENST00000351698.4	-	1	153	c.105C>T	c.(103-105)acC>acT	p.T35T	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	35					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.T35T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AGATGTAGCCGGTGAGGACGC	0.726000													6	16					0	0	0.001168	0	0
ETV5	2119	broad.mit.edu	37	3	185774902	185774902	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:185774902C>A	ENST00000306376.5	-	11	1417	c.1171G>T	c.(1171-1173)Ggt>Tgt	p.G391C	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.G433C|ETV5_ENST00000434744.1_Missense_Mutation_p.G391C	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	391					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.G391C(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATGCCTCGACCTGTCCAGGCA	0.522000			T	"""TMPRSS2, SCL45A3"""	Prostate								9	46					1.12685e-05	1.33883e-05	0.004482	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6435620	6435620	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:6435620G>A	ENST00000449001.2	+	13	1949	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	PLEKHG6_ENST00000304581.8_Silent_p.E47E|PLEKHG6_ENST00000396988.3_Silent_p.E517E|PLEKHG6_ENST00000011684.7_Silent_p.E517E	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	517	PH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E517E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGAAGGCAGAGGAGTATGTTC	0.572000													4	49					0	0	0.001168	0	0
CD226	10666	broad.mit.edu	37	18	67563048	67563048	+	Missense_Mutation	SNP	C	C	T	rs148019790		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:67563048C>T	ENST00000280200.4	-	4	884	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	CD226_ENST00000582621.1_Missense_Mutation_p.V206I|CD226_ENST00000577287.1_Missense_Mutation_p.V51I|CD226_ENST00000581982.1_Missense_Mutation_p.V51I	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	206	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.S205_V206>RI(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ATGACGATGACGCTCCACCTT	0.517000													24	156					0	0	0.003330	0	0
WEE2	494551	broad.mit.edu	37	7	141429403	141429403	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:141429403G>A	ENST00000397541.2	+	11	2014	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	536					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGGTCTCTGGGACCCACACAG	0.517000													23	60					0	0	0.002780	0	0
GIPC2	54810	broad.mit.edu	37	1	78546432	78546432	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:78546432A>G	ENST00000370759.3	+	2	507	c.314A>G	c.(313-315)gAt>gGt	p.D105G	GIPC2_ENST00000476882.1_3'UTR	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	105						cytoplasm		p.D105G(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGACTAGAAGATTTCATATTT	0.353000													47	117					0	0	0.003610	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328912	6328912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:6328912G>T	ENST00000344545.5	+	1	564	c.317G>T	c.(316-318)tGc>tTc	p.C106F	TPD52L3_ENST00000381428.1_Missense_Mutation_p.C106F|TPD52L3_ENST00000314556.3_Missense_Mutation_p.C106F	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	106							protein binding	p.C106F(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACTCTCATCTGCAGGAAGCTT	0.502000													25	57					7.76418e-22	1.38543e-21	0.005443	1	0
KIF3C	3797	broad.mit.edu	37	2	26203668	26203668	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:26203668C>T	ENST00000264712.3	-	1	1698	c.1119G>A	c.(1117-1119)gaG>gaA	p.E373E	KIF3C_ENST00000405914.1_Silent_p.E373E	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	373	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E373E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGGGGTCCTCGTTCACCT	0.612000													12	57					0	0	0.001368	0	0
ATRN	8455	broad.mit.edu	37	20	3527985	3527985	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:3527985T>C	ENST00000262919.5	+	5	860	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ATRN_ENST00000446916.2_Silent_p.N264N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	264					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.N264N(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						AGATCAGTAATAGCAGCGATA	0.413000													5	83					0	0	0.001168	0	0
RAB34	83871	broad.mit.edu	37	17	27041710	27041710	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:27041710C>G	ENST00000395245.3	-	10	1357	c.731G>C	c.(730-732)aGc>aCc	p.S244T	RAB34_ENST00000395242.2_Missense_Mutation_p.S245T|RAB34_ENST00000395243.3_Missense_Mutation_p.S236T|RAB34_ENST00000453384.3_Intron|RAB34_ENST00000436730.3_Missense_Mutation_p.S244T|RAB34_ENST00000415040.2_Missense_Mutation_p.S222T|RAB34_ENST00000301043.6_Missense_Mutation_p.S244T|RAB34_ENST00000447716.1_Missense_Mutation_p.S301T|RAB34_ENST00000450529.1_Missense_Mutation_p.S236T	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	244					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.S244T(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GTAGAGGTTGCTGTCATCACT	0.552000													7	83					0	0	0.003080	0	0
EPHA6	285220	broad.mit.edu	37	3	96963122	96963122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:96963122G>T	ENST00000389672.5	+	5	1635	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	EPHA6_ENST00000470610.2_Missense_Mutation_p.D533Y	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	438	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D439Y(2)|p.D533Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGACCACGGATCAAGATGG	0.398000													26	97					5.60225e-13	8.56395e-13	0.009535	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3674161	3674161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:3674161G>T	ENST00000344754.4	-	13	3440	c.3441C>A	c.(3439-3441)taC>taA	p.Y1147*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Y1147*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1147	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Y1147*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACCGCAGCGGTAGGAGGTGG	0.657000													13	47					0.00185496	0.00200989	0.001855	1	0
SPEM1	374768	broad.mit.edu	37	17	7324683	7324683	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:7324683C>T	ENST00000323675.3	+	3	714	c.689C>T	c.(688-690)gCa>gTa	p.A230V	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	230					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.A230V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTGCCAGAGGCAGAGGCGGCT	0.637000													7	21					0	0	0.003080	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968844	99968844	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:99968844G>C	ENST00000298999.3	+	5	1276	c.973G>C	c.(973-975)Gtt>Ctt	p.V325L	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.V325L|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.V325L(1)									AAATGACACTGTTAGTCCAGT	0.408000													24	87					0	0	0.003330	0	0
LRP1	4035	broad.mit.edu	37	12	57603849	57603849	+	Silent	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:57603849C>G	ENST00000243077.3	+	81	12943	c.12477C>G	c.(12475-12477)ctC>ctG	p.L4159L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4159	EGF-like 16.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.L4159L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGAGTGGCTCTGCCTGCTGA	0.647000													7	65					0	0	0.003080	0	0
MUC7	4589	broad.mit.edu	37	4	71346811	71346811	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:71346811C>A	ENST00000413702.1	+	4	638	c.350C>A	c.(349-351)cCa>cAa	p.P117Q	MUC7_ENST00000304887.5_Missense_Mutation_p.P117Q|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P117Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	117	Thr-rich.					extracellular region	protein binding	p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GTGACTTTCCCATCAGCTTCC	0.428000													16	82					1.15088e-07	1.46531e-07	0.004007	1	0
RYR2	6262	broad.mit.edu	37	1	237729891	237729891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:237729891G>T	ENST00000366574.2	+	28	3556	c.3239G>T	c.(3238-3240)gGc>gTc	p.G1080V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1078V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1064V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1080	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1078V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTGCAGCGGCACCGGGGAA	0.507000													14	44					7.93312e-07	9.81417e-07	0.002450	1	0
MED7	9443	broad.mit.edu	37	5	156565909	156565909	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:156565909T>C	ENST00000286317.5	-	2	915	c.534A>G	c.(532-534)tcA>tcG	p.S178S	MED7_ENST00000420343.1_Silent_p.S178S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	178					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	p.S178S(1)		kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCTTCTGAATGAGGCA	0.393000													19	78					0	0	0.001882	0	0
CGB2	114336	broad.mit.edu	37	19	49535356	49535356	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:49535356T>C	ENST00000359342.6	+	1	122	c.4T>C	c.(4-6)Tca>Cca	p.S2P	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2			chorionic gonadotropin, beta polypeptide 2									p.S2P(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GAGAGACATGTCAAAGGTAGG	0.547000													4	79					0	0	0.000602	0	0
WNT2	7472	broad.mit.edu	37	7	116918433	116918433	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:116918433G>T	ENST00000265441.3	-	5	1158	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	287					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.L287M(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCTGTACCCAGGGAGCCTGGA	0.582000													4	14					0.00909568	0.00961658	0.009096	1	0
CSMD3	114788	broad.mit.edu	37	8	114111138	114111138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:114111138G>T	ENST00000297405.5	-	5	1008	c.764C>A	c.(763-765)cCt>cAt	p.P255H	CSMD3_ENST00000343508.3_Missense_Mutation_p.P215H|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.P255H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P255H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	255	CUB 2.					integral to membrane|plasma membrane		p.P255H(2)|p.P215H(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAAAACTAGGGCTGGATAT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	47					1.22574e-08	1.62081e-08	0.002299	1	0
JMJD1C	221037	broad.mit.edu	37	10	64968929	64968929	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:64968929T>A	ENST00000399262.2	-	9	2979	c.2761A>T	c.(2761-2763)Agt>Tgt	p.S921C	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S739C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S702C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S702C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	921					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.S921C(1)|p.S702C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGAATGTGACTAAGTAATCCA	0.428000													5	66					0	0	0.000602	0	0
EHBP1	23301	broad.mit.edu	37	2	63217871	63217871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:63217871G>T	ENST00000263991.5	+	18	3324	c.2842G>T	c.(2842-2844)Gac>Tac	p.D948Y	EHBP1_ENST00000405289.1_Missense_Mutation_p.D913Y|EHBP1_ENST00000405015.3_Missense_Mutation_p.D877Y|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.D877Y|EHBP1_ENST00000354487.3_Missense_Mutation_p.D913Y	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	948						cytoplasm|membrane		p.D948Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGTTGGTGGACTTGAAGCT	0.428000													13	57					0.00010058	0.000114675	0.001368	1	0
FIBIN	387758	broad.mit.edu	37	11	27016134	27016134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:27016134G>T	ENST00000318627.2	+	1	507	c.61G>T	c.(61-63)Gat>Tat	p.D21Y		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	21						extracellular region|Golgi apparatus		p.D21Y(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGGCTACTTCGATGGCCCCCT	0.542000													32	74					4.34311e-12	6.43423e-12	0.003271	1	0
NBAS	51594	broad.mit.edu	37	2	15307192	15307192	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:15307192C>G	ENST00000281513.5	-	52	7121	c.7096G>C	c.(7096-7098)Gca>Cca	p.A2366P	NBAS_ENST00000441750.1_Missense_Mutation_p.A2246P	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2366								p.A2366P(1)|p.A2366T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCTGTGCTGCGCGGAGGGCT	0.602000													14	45					0	0	0.004007	0	0
PCGF5	84333	broad.mit.edu	37	10	93000258	93000258	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:93000258G>T	ENST00000336126.5	+	3	362	c.130G>T	c.(130-132)Gtt>Ttt	p.V44F	PCGF5_ENST00000543648.1_Missense_Mutation_p.V44F	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	p.V44F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GACTTGTATTGTTCAGCACTT	0.343000													24	108					3.08376e-08	4.0223e-08	0.003330	1	0
MICALL1	85377	broad.mit.edu	37	22	38321897	38321897	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:38321897G>T	ENST00000215957.6	+	8	1438	c.1312G>T	c.(1312-1314)Gct>Tct	p.A438S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	438	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A438S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ggaggaagaggCTCCAGCTGC	0.667000													6	17					3.59834e-05	4.18209e-05	0.001168	1	0
CDH18	1016	broad.mit.edu	37	5	19612583	19612583	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:19612583G>C	ENST00000507958.1	-	8	1761	c.771C>G	c.(769-771)acC>acG	p.T257T	CDH18_ENST00000502796.1_Silent_p.T257T|CDH18_ENST00000506372.1_Silent_p.T257T|CDH18_ENST00000382275.1_Silent_p.T257T|CDH18_ENST00000274170.4_Silent_p.T257T|CDH18_ENST00000511273.1_Silent_p.T257T			Q13634	CAD18_HUMAN	cadherin 18, type 2	257	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T257T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATCGGTTAAGGTGATGTTGA	0.403000													11	63					0	0	0.008291	0	0
MARCH11	441061	broad.mit.edu	37	5	16067755	16067755	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:16067755C>G	ENST00000332432.8	-	4	1233	c.1034G>C	c.(1033-1035)tGg>tCg	p.W345S		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	345						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	p.W345S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CAATGGCAACCACAAAGTCCT	0.473000													12	107					0	0	0.001368	0	0
OR56A4	120793	broad.mit.edu	37	11	6024013	6024013	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:6024013G>C	ENST00000330728.4	-	1	411	c.366C>G	c.(364-366)tcC>tcG	p.S122S		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S122*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTCCAGCAGGGAGAGGAGGC	0.602000													20	86					0	0	0.008871	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254142	39254142	+	Silent	SNP	A	A	G	rs151141551	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:39254142A>G	ENST00000333822.4	-	1	251	c.195T>C	c.(193-195)tgT>tgC	p.C65C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	65	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGGGCGACAGCAGGTGG	0.657000													4	78					0	0	0.003080	0	0
RP1L1	94137	broad.mit.edu	37	8	10467247	10467247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:10467247G>T	ENST00000382483.3	-	4	4584	c.4361C>A	c.(4360-4362)cCt>cAt	p.P1454H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1454					intracellular signal transduction			p.P1454H(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GAGATGACTAGGGGGCTCTGT	0.637000													37	157					6.53348e-20	1.14039e-19	0.003755	1	0
HAPLN4	404037	broad.mit.edu	37	19	19369598	19369598	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:19369598G>T	ENST00000291481.7	-	4	614	c.551C>A	c.(550-552)gCg>gAg	p.A184E	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	184	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.A184E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CTCGGCGCACGCGCGCTGCGC	0.711000													4	9					0.00909568	0.00961658	0.009096	1	0
KLHL31	401265	broad.mit.edu	37	6	53519011	53519011	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:53519011T>G	ENST00000370905.3	-	2	1200	c.1060A>C	c.(1060-1062)Aaa>Caa	p.K354Q	KLHL31_ENST00000407079.1_Missense_Mutation_p.K354Q	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.K354Q(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TTAAAACTTTTGGCTGGCATT	0.473000													5	79					0	0	0.001168	0	0
MMP2	4313	broad.mit.edu	37	16	55530930	55530930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:55530930C>T	ENST00000219070.4	+	10	2074	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	MMP2_ENST00000437642.2_Missense_Mutation_p.A472V|MMP2_ENST00000543485.1_Missense_Mutation_p.A446V|MMP2_ENST00000570308.1_Missense_Mutation_p.A446V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	522	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A522V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AAGATTGATGCGGTATACGAG	0.617000													4	87					0	0	0.000602	0	0
VEPH1	79674	broad.mit.edu	37	3	157131722	157131722	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:157131722T>A	ENST00000362010.2	-	6	1161	c.854A>T	c.(853-855)tAc>tTc	p.Y285F	VEPH1_ENST00000543418.1_Missense_Mutation_p.Y285F|VEPH1_ENST00000392832.2_Missense_Mutation_p.Y285F|VEPH1_ENST00000392833.2_Missense_Mutation_p.Y285F|VEPH1_ENST00000469007.1_5'UTR	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	285						plasma membrane		p.Y285F(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCAGTGAGGTAGGGGAATCT	0.448000													51	124					0	0	0.003610	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968236	4968236	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrY:4968236C>A	ENST00000333703.4	+	5	3097	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.H873N|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.H873N	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	873					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H873N(2)|p.H862N(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAGGCACCACACCTTAAGGC	0.428000													13	39					0.000151284	0.000171265	0.001855	1	0
MEOX1	4222	broad.mit.edu	37	17	41738613	41738613	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:41738613G>A	ENST00000318579.4	-	1	709	c.290C>T	c.(289-291)cCt>cTt	p.P97L	MEOX1_ENST00000549132.1_Silent_p.L68L|MEOX1_ENST00000329168.3_Missense_Mutation_p.P97L|MEOX1_ENST00000393661.2_5'UTR	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	97						nucleus	sequence-specific DNA binding	p.P97L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GTCTGAGACAGGGAAGTGCCA	0.677000													13	104					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92535025	92535025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:92535025G>T	ENST00000298047.6	+	9	8863	c.8846G>T	c.(8845-8847)tGg>tTg	p.W2949L	FAT3_ENST00000409404.2_Missense_Mutation_p.W2949L|FAT3_ENST00000525166.1_Missense_Mutation_p.W2799L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2949	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W2949L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCAGCACCTGGGACAGAGAC	0.498000										TCGA Ovarian(4;0.039)			15	84					4.75885e-15	7.76955e-15	0.004990	1	0
F8	2157	broad.mit.edu	37	X	154158604	154158604	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:154158604T>C	ENST00000360256.4	-	14	3661	c.3461A>G	c.(3460-3462)gAa>gGa	p.E1154G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1154	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.E1154G(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGATTTTTCTGGTCCTAA	0.423000													56	37					0	0	0.003610	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645244	122645244	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:122645244G>T	ENST00000195173.4	-	9	1434	c.1131C>A	c.(1129-1131)acC>acA	p.T377T	SEMA5B_ENST00000451055.2_Silent_p.T431T|SEMA5B_ENST00000357599.3_Silent_p.T377T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	377	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.T377T(1)|p.T431T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCACACGTTGGTTGTGAAAA	0.587000													6	22					8.12818e-05	9.31152e-05	0.001984	1	0
ITGB8	3696	broad.mit.edu	37	7	20449351	20449351	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:20449351A>T	ENST00000222573.3	+	13	2821	c.2137A>T	c.(2137-2139)Agt>Tgt	p.S713C	ITGB8_ENST00000537992.1_Missense_Mutation_p.S578C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	713					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S713C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACAATGGAATAGTAATAAAAT	0.333000													34	93					0	0	0.002096	0	0
CPOX	1371	broad.mit.edu	37	3	98307565	98307565	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:98307565A>C	ENST00000264193.2	-	4	1163	c.945T>G	c.(943-945)ttT>ttG	p.F315L		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	315						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	p.F315L(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ACCATTTTTTAAATTTGGGGT	0.403000													13	48					0	0	0.001855	0	0
PHLPP2	23035	broad.mit.edu	37	16	71713315	71713315	+	Silent	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:71713315T>G	ENST00000393524.2	-	6	1747	c.1014A>C	c.(1012-1014)ccA>ccC	p.P338P	PHLPP2_ENST00000567016.1_Silent_p.P373P|PHLPP2_ENST00000356272.3_Silent_p.P338P|PHLPP2_ENST00000568954.1_Silent_p.P338P|PHLPP2_ENST00000360429.3_Silent_p.P338P			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	338						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.P338P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAATTTGACTTGGTAGGTCAT	0.393000													9	42					0	0	0.004482	0	0
UNC45B	146862	broad.mit.edu	37	17	33491121	33491121	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:33491121T>C	ENST00000268876.5	+	9	1184	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	UNC45B_ENST00000591048.1_Missense_Mutation_p.Y363H|UNC45B_ENST00000394570.2_Missense_Mutation_p.Y363H|UNC45B_ENST00000433649.1_Missense_Mutation_p.Y363H|UNC45B_ENST00000378449.1_Missense_Mutation_p.Y363H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	363					cell differentiation|muscle organ development	cytosol	binding	p.Y363H(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)				CAACAAGCTCTATGATGACCT	0.557000													17	168					0	0	0.008871	0	0
PEAR1	375033	broad.mit.edu	37	1	156873709	156873709	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:156873709G>T	ENST00000338302.3	+	3	216		c.e3-1		PEAR1_ENST00000292357.7_Splice_Site			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1							integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTTGCTGCAGGCCTCTGCAA	0.632000													48	68					2.74695e-27	5.03259e-27	0.003610	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555056	44555056	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:44555056A>T	ENST00000330682.2	-	1	1393	c.1158T>A	c.(1156-1158)gcT>gcA	p.A386A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	386	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R387G(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGTCTCTCGAGCGAGTGCGG	0.567000													48	2217					0	0	0.002780	0	0
OR1A1	8383	broad.mit.edu	37	17	3119640	3119640	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:3119640C>A	ENST00000304094.1	+	1	726	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242S(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTGTGGTTCCCACCTCACGG	0.473000													50	115					8.00217e-19	1.38167e-18	0.003610	1	0
LAMB1	3912	broad.mit.edu	37	7	107642144	107642144	+	Silent	SNP	G	G	T	rs141455945		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:107642144G>T	ENST00000393561.1	-	1	328	c.144C>A	c.(142-144)ccC>ccA	p.P48P	LAMB1_ENST00000222399.6_Silent_p.P24P|LAMB1_ENST00000393560.1_Silent_p.P24P			P07942	LAMB1_HUMAN	laminin, beta 1	24	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.P24P(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGAACTCGGGTTCCTGAG	0.637000													4	17					0.00024832	0.000275911	0.009096	1	0
CTTN	2017	broad.mit.edu	37	11	70279782	70279782	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:70279782G>T	ENST00000346329.3	+	16	1671	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y	CTTN_ENST00000538675.1_Missense_Mutation_p.D176Y|CTTN_ENST00000376561.3_Missense_Mutation_p.D455Y|CTTN_ENST00000301843.8_Missense_Mutation_p.D492Y	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	492						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.D492Y(2)|p.D455Y(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTACGAGAACGATCTGGGGAT	0.557000													15	62					6.31663e-08	8.12863e-08	0.003163	1	0
ITIH2	3698	broad.mit.edu	37	10	7786869	7786869	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:7786869C>G	ENST00000358415.4	+	19	2690	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L831V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	842					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L842V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTTGACTTTCTGGGAATCTA	0.433000													19	72					0	0	0.002780	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536220	69536220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:69536220C>T	ENST00000338206.5	-	1	126	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	39					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.M39I(1)									GGATTGTCTTCATATTTATCC	0.448000													128	484					0	0	0.003610	0	0
LRTM2	654429	broad.mit.edu	37	12	1943774	1943774	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:1943774A>T	ENST00000543818.1	+	5	1842	c.1000A>T	c.(1000-1002)Atc>Ttc	p.I334F	CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.I334F|LRTM2_ENST00000299194.1_Missense_Mutation_p.I334F	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	334						integral to membrane		p.I334F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTATGGCTGCATCTACGCCTC	0.652000													19	42					0	0	0.007413	0	0
AP1M1	8907	broad.mit.edu	37	19	16339013	16339013	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:16339013G>C	ENST00000291439.3	+	8	1331	c.882G>C	c.(880-882)atG>atC	p.M294I	AP1M1_ENST00000444449.2_Missense_Mutation_p.M306I|AP1M1_ENST00000590756.1_Missense_Mutation_p.M222I|AP1M1_ENST00000541844.1_Missense_Mutation_p.M222I|AP1M1_ENST00000429941.2_Missense_Mutation_p.M294I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	294	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	p.M294I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCGAGTACATGATCAAGGTGC	0.627000													4	15					0	0	0.000602	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802964	31802964	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr21:31802964C>G	ENST00000334068.2	+	1	393	c.371C>G	c.(370-372)tCc>tGc	p.S124C		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	124						intermediate filament		p.S124C(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GGTTTTCCTTCCCTGAGTTAC	0.502000													14	44					0	0	0.002450	0	0
RHPN1	114822	broad.mit.edu	37	8	144464817	144464817	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:144464817C>A	ENST00000289013.6	+	15	2110	c.2009C>A	c.(2008-2010)cCg>cAg	p.P670Q		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	695					signal transduction	intracellular		p.P670Q(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCAGGGTGGCCGTGAGGGCCA	0.687000													4	24					0.00024832	0.000275911	0.009096	1	0
COL15A1	1306	broad.mit.edu	37	9	101824294	101824294	+	Silent	SNP	G	G	T	rs146027381		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:101824294G>T	ENST00000375001.3	+	37	3867	c.3444G>T	c.(3442-3444)gcG>gcT	p.A1148A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1148	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.A1148A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCAGAAAGCGCATTTGGTTA	0.403000													32	115					2.81731e-10	3.90841e-10	0.002096	1	0
OR7E24	26648	broad.mit.edu	37	19	9361944	9361944	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:9361944C>A	ENST00000456448.1	+	1	339	c.225C>A	c.(223-225)acC>acA	p.T75T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75T(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ACCTCCACACCCCCATGTACT	0.577000													17	53					3.41278e-10	4.6938e-10	0.004990	1	0
KEAP1	9817	broad.mit.edu	37	19	10610382	10610382	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:10610382T>C	ENST00000171111.5	-	2	875	c.328A>G	c.(328-330)Atg>Gtg	p.M110V	KEAP1_ENST00000393623.2_Missense_Mutation_p.M110V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	110	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.M110V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TTGGTGAACATGGCCTTGAAG	0.607000													12	21					0	0	0.000978	0	0
GLB1L2	89944	broad.mit.edu	37	11	134239728	134239728	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:134239728G>T	ENST00000535456.2	+	11	1245	c.1057G>T	c.(1057-1059)Gat>Tat	p.D353Y	GLB1L2_ENST00000389881.3_Missense_Mutation_p.D353Y|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D353Y	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	353					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D353Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGAAGCCGGCGATTACACGGC	0.552000													30	91					2.65835e-16	4.46156e-16	0.007291	1	0
OR14C36	127066	broad.mit.edu	37	1	248513010	248513010	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:248513010G>A	ENST00000317861.1	+	1	934	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V312M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TTCAGAAAATGTGTAAGAAAC	0.333000													20	107					0	0	0.008871	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933446	31933446	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr21:31933446C>T	ENST00000334849.2	-	1	187	c.163G>A	c.(163-165)Ggg>Agg	p.G55R		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	55						intermediate filament		p.G55R(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTATCCCCCATAGCATGAT	0.453000													46	106					0	0	0.003610	0	0
OR5K2	402135	broad.mit.edu	37	3	98216577	98216577	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:98216577C>A	ENST00000427338.1	+	1	130	c.53C>A	c.(52-54)aCa>aAa	p.T18K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T18K(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGGATTTACAGATCACCCT	0.388000													34	113					9.8876e-21	1.74487e-20	0.004878	1	0
TRBV11-1	28582	broad.mit.edu	37	7	142223903	142223903	+	RNA	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:142223903C>G	ENST00000390367.3	-	0	280																											CTCCTTTGAGCCTCTCTGCAG	0.532000													17	164					0	0	0.007413	0	0
HAUS6	54801	broad.mit.edu	37	9	19063030	19063030	+	Silent	SNP	T	T	C	rs34304297		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:19063030T>C	ENST00000380502.3	-	14	2072	c.1605A>G	c.(1603-1605)aaA>aaG	p.K535K	HAUS6_ENST00000380496.1_Silent_p.K399K	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	535					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.K535K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GATCTTGCTCTTTTTGAAATG	0.383000													40	93					0	0	0.007835	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815427	106815427	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:106815427A>T	ENST00000407775.2	+	8	3367	c.3117A>T	c.(3115-3117)cgA>cgT	p.R1039R	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.R907R|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.R907R|ZFPM2_ENST00000378472.4_Silent_p.R770R|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1039					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R1039R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAAATCGAGGAATGGTAA	0.468000													19	36					0	0	0.006122	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112699	148112699	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:148112699G>T	ENST00000361727.3	+	24	4503	c.3987G>T	c.(3985-3987)tgG>tgT	p.W1329C	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.W388C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1329					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.W1329C(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAAGGAATGGCTCATTTGAG	0.532000										HNSCC(39;0.1)			21	64					1.96292e-10	2.74695e-10	0.010504	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967791	4967791	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrY:4967791C>A	ENST00000333703.4	+	5	2652	c.2139C>A	c.(2137-2139)ggC>ggA	p.G713G	PCDH11Y_ENST00000215473.6_Silent_p.G724G|PCDH11Y_ENST00000362095.5_Silent_p.G724G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	724	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G724G(2)|p.G713G(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTAATCCAGGCACAGTGGTCT	0.408000													14	43					3.32936e-07	4.17257e-07	0.006122	1	0
TRIM26	7726	broad.mit.edu	37	6	30164347	30164347	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:30164347C>A	ENST00000454678.2	-	6	1147	c.711G>T	c.(709-711)ctG>ctT	p.L237L	TRIM26_ENST00000437089.1_Silent_p.L237L|TRIM26_ENST00000453195.1_Silent_p.L237L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	237							DNA binding|zinc ion binding	p.L237L(1)		lung(1)|ovary(2)	3						CGGAGATGACCAGGGCCAGCC	0.682000													5	96					0.00116845	0.0012689	0.001168	1	0
MYOM3	127294	broad.mit.edu	37	1	24418670	24418670	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:24418670A>G	ENST00000330966.7	-	11	1391	c.1229T>C	c.(1228-1230)aTt>aCt	p.I410T	MYOM3_ENST00000374434.3_Missense_Mutation_p.I409T|MYOM3_ENST00000329601.7_Missense_Mutation_p.I409T|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	409	Fibronectin type-III 1.							p.I409T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCACCGCTCAATGGTGTAGGC	0.607000													16	60					0	0	0.003163	0	0
P2RY8	286530	broad.mit.edu	37	X	1584526	1584526	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:1584526C>G	ENST00000381297.4	-	2	1136	c.926G>C	c.(925-927)gGc>gCc	p.G309A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	309						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G309A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGCGGCAGCCCAAATATTC	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""								13	62					0	0	0.001368	0	0
MUC3A	4584	broad.mit.edu	37	7	100552896	100552896	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:100552896G>T	ENST00000319509.7	+	2	1541	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V						mucin 3A, cell surface associated									p.G514V(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGTGACAATGGTGGCACCTGG	0.562000													7	124					0.00316338	0.00340453	0.003163	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54676191	54676191	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:54676191G>T	ENST00000474759.1	+	11	1138	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.A364S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.A364S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.A270S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	364	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A364S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGCAGTCAGGCCATCATGCT	0.408000													11	17					7.03913e-09	9.3855e-09	0.001368	1	0
RYR1	6261	broad.mit.edu	37	19	38931504	38931504	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:38931504G>T	ENST00000355481.4	+	2	296	c.165_splice	c.e2+1	p.Q55_splice	RYR1_ENST00000359596.3_Splice_Site_p.Q55_splice|RYR1_ENST00000360985.3_Splice_Site_p.Q55_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	55					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q55H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAACGCGCAGGTCTGTGCAG	0.637000													13	29					4.93089e-13	7.58599e-13	0.002450	1	0
FNDC5	252995	broad.mit.edu	37	1	33330312	33330312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:33330312C>A	ENST00000373471.3	-	5	652	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	FNDC5_ENST00000481487.1_5'UTR	NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	180						integral to membrane|peroxisomal membrane		p.E121*(1)		breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGCTGGTTTCTGATGCACTC	0.567000													18	48					3.52763e-06	4.26515e-06	0.004990	1	0
DST	667	broad.mit.edu	37	6	56481510	56481510	+	Missense_Mutation	SNP	C	C	A	rs140152012	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:56481510C>A	ENST00000370765.6	-	24	6862	c.6755G>T	c.(6754-6756)gGg>gTg	p.G2252V	DST_ENST00000312431.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1594					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.G2252V(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATGACACCCCCACTGGCAAT	0.423000													23	133					7.41877e-09	9.83795e-09	0.001882	1	0
CLU	1191	broad.mit.edu	37	8	27462494	27462494	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:27462494T>A	ENST00000316403.10	-	5	1181	c.776A>T	c.(775-777)gAc>gTc	p.D259V	CLU_ENST00000560366.1_Missense_Mutation_p.D311V|CLU_ENST00000405140.3_Missense_Mutation_p.D259V|CLU_ENST00000546343.1_Missense_Mutation_p.D270V|CLU_ENST00000523500.1_Missense_Mutation_p.D259V			P10909	CLUS_HUMAN	clusterin	259					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.D311V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GAAGTGGATGTCCATGGCCTG	0.562000													36	90					0	0	0.006230	0	0
KCNA4	3739	broad.mit.edu	37	11	30032966	30032966	+	Silent	SNP	G	G	A	rs143729714	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:30032966G>A	ENST00000328224.6	-	2	2493	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	420						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.G420G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAGGTCAGTGCCCAGTGTGA	0.512000													11	60					0	0	0.000978	0	0
SFRP1	6422	broad.mit.edu	37	8	41122771	41122771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:41122771C>T	ENST00000220772.3	-	3	1197	c.860G>A	c.(859-861)tGg>tAg	p.W287*	SFRP1_ENST00000379845.3_Nonsense_Mutation_p.W151*	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	287	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.W287*(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTCTTGTCCCACTTGTGGAT	0.517000													16	59					0	0	0.004007	0	0
FGB	2244	broad.mit.edu	37	4	155489562	155489562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:155489562G>T	ENST00000302068.4	+	5	811	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	FGB_ENST00000509493.1_Nonsense_Mutation_p.E31*|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	250	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E250*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAAGGAGGTGAAACATCTGA	0.353000													26	67					2.79863e-10	3.89375e-10	0.004656	1	0
OR52N1	79473	broad.mit.edu	37	11	5809776	5809776	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:5809776G>C	ENST00000317078.1	-	1	270	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L91V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATCTCCTTGAGATTAAACCAC	0.493000													11	124					0	0	0.001368	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177028	71177028	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:71177028C>A	ENST00000333538.5	+	11	2328	c.1694C>A	c.(1693-1695)aCg>aAg	p.T565K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	565	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T565K(1)|p.T565M(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AACAAGGGCACGGGACGCTGC	0.567000													15	92					6.31663e-08	8.12863e-08	0.003163	1	0
ADAM18	8749	broad.mit.edu	37	8	39442795	39442795	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:39442795G>T	ENST00000265707.5	+	2	101	c.55_splice	c.e2-1	p.G19_splice	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Splice_Site_p.G19_splice|ADAM18_ENST00000520772.1_Splice_Site_p.G19_splice	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	19					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.G19V(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTTACTGCAGGTTCTGAAGGA	0.403000													9	33					5.68852e-11	8.12646e-11	0.004482	1	0
SLC8A2	6543	broad.mit.edu	37	19	47935571	47935571	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:47935571C>T	ENST00000236877.6	-	9	2637	c.2242G>A	c.(2242-2244)Ggc>Agc	p.G748S	SLC8A2_ENST00000542837.1_Missense_Mutation_p.G504S|SLC8A2_ENST00000539381.1_Missense_Mutation_p.G211S	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	748					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G748S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGGCCCAGCCGTGGCAGTAC	0.637000													18	65					0	0	0.006122	0	0
INSRR	3645	broad.mit.edu	37	1	156815556	156815556	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:156815556C>T	ENST00000368195.3	-	10	2425	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	677	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.G677W(1)|p.G677R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGGATCCCCGTCTTCGCCG	0.667000													7	53					0	0	0.006214	0	0
GAS2L3	283431	broad.mit.edu	37	12	101005823	101005823	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:101005823G>T	ENST00000537247.1	+	6	991	c.37G>T	c.(37-39)Ggt>Tgt	p.G13C	GAS2L3_ENST00000266754.5_Missense_Mutation_p.G117C|GAS2L3_ENST00000539410.1_Missense_Mutation_p.G117C|GAS2L3_ENST00000547754.1_Missense_Mutation_p.G117C			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	117					cell cycle arrest			p.G117C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTGCATCAGGTTCATTCTT	0.373000													39	88					1.62957e-23	2.96286e-23	0.008740	1	0
FBN2	2201	broad.mit.edu	37	5	127873059	127873059	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:127873059G>C	ENST00000508053.1	-	7	1212	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	FBN2_ENST00000508989.1_Missense_Mutation_p.Q80E|FBN2_ENST00000262464.4_Missense_Mutation_p.Q80E			P35556	FBN2_HUMAN	fibrillin 2	80					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q80E(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCACGTCCTGCTGTCCTCGC	0.687000													12	20					0	0	0.001855	0	0
PTPRK	5796	broad.mit.edu	37	6	128294963	128294963	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:128294963C>T	ENST00000368227.3	-	29	4396	c.4030G>A	c.(4030-4032)Ggt>Agt	p.G1344S	PTPRK_ENST00000532331.1_Missense_Mutation_p.G1349S|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1359S|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1345S|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1326S|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1327S|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1333S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1326	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1327S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCAGATAACCTTCCTGTGGC	0.393000													6	59					0	0	0.001168	0	0
EXT1	2131	broad.mit.edu	37	8	119123235	119123235	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:119123235G>A	ENST00000378204.2	-	1	857	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	17					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.L17L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ACAAAAGGGCGAGACAAGAGC	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				6	23					0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26164978	26164978	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:26164978G>T	ENST00000335473.7	+	4	1345	c.1095G>T	c.(1093-1095)ttG>ttT	p.L365F	MYO18B_ENST00000536101.1_Missense_Mutation_p.L365F|MYO18B_ENST00000407587.2_Missense_Mutation_p.L365F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	365						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.L365F(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGGCGAGTTGGGGGACGATC	0.542000													3	8					0.004672	0.00498347	0.004672	1	0
KIAA1199	57214	broad.mit.edu	37	15	81224242	81224242	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:81224242C>A	ENST00000394685.3	+	22	3074	c.2655C>A	c.(2653-2655)atC>atA	p.I885I	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.I885I|KIAA1199_ENST00000356249.5_Silent_p.I885I			Q8WUJ3	K1199_HUMAN	KIAA1199	885								p.I885I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGGCCCCATCAACATCCAAA	0.488000													43	88					2.24893e-16	3.80101e-16	0.009718	1	0
MN1	4330	broad.mit.edu	37	22	28193499	28193499	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:28193499C>A	ENST00000302326.4	-	1	3987	c.3033G>T	c.(3031-3033)ggG>ggT	p.G1011G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1011							binding	p.G1011V(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CAGCCCCCTTCCCCCAGGATG	0.687000			T	ETV6	"""AML, meningioma"""								5	28					0.000602214	0.000659961	0.000602	1	0
EIF4H	7458	broad.mit.edu	37	7	73588723	73588723	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:73588723T>G	ENST00000265753.8	+	1	149	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	EIF4H_ENST00000353999.6_Missense_Mutation_p.F4V	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	4					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	p.F4V(1)		endometrium(1)|lung(2)|prostate(1)	4						AATGGCGGACTTCGACACCTA	0.731000													6	28					0	0	0.003080	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655394	46655394	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:46655394G>T	ENST00000253255.5	-	1	3825	c.3826C>A	c.(3826-3828)Cga>Aga	p.R1276R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1276	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R1276R(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGCTACCTCGGTAGAGAGTT	0.512000													20	78					3.8784e-16	6.48653e-16	0.001882	1	0
EXPH5	23086	broad.mit.edu	37	11	108383289	108383289	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:108383289C>A	ENST00000265843.4	-	6	3055	c.2945G>T	c.(2944-2946)tGt>tTt	p.C982F	EXPH5_ENST00000525344.1_Missense_Mutation_p.C975F|EXPH5_ENST00000428840.1_Missense_Mutation_p.C906F|EXPH5_ENST00000443411.1_Missense_Mutation_p.C794F	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	982					intracellular protein transport		Rab GTPase binding	p.C982F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTTTCAATACAGGATATATG	0.378000													22	131					0.000229342	0.000256606	0.001882	1	0
LIN28B	389421	broad.mit.edu	37	6	105405135	105405135	+	Splice_Site	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:105405135G>A	ENST00000345080.4	+	1	213	c.10_splice	c.e1+1	p.G4_splice		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	4					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.G4S(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CATGGCCGAAGGTTAATTTTC	0.478000													8	58					0	0	0.004482	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391656	22391656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:22391656C>A	ENST00000263160.3	+	8	1400	c.963C>A	c.(961-963)tgC>tgA	p.C321*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	321					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C321*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAAACTTCTGCAGAAGCTGGA	0.328000													13	60					1.49906e-05	1.7636e-05	0.002450	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110413726	110413726	+	Splice_Site	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:110413726G>C	ENST00000378402.5	+	14	1386	c.1281_splice	c.e14-1	p.V428_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	428					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V430L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCGGATTAGGTGAGGATTGC	0.323000										HNSCC(38;0.096)			12	61					0	0	0.001368	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995630	19995630	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:19995630A>T	ENST00000391403.2	-	1	2248	c.2145T>A	c.(2143-2145)gcT>gcA	p.A715A		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	715	Pro-rich.					integral to membrane		p.A715A(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTGCAAATGGAGCACGTGGTG	0.507000													43	91					0	0	0.008740	0	0
ACTN2	88	broad.mit.edu	37	1	236911057	236911057	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:236911057G>T	ENST00000366578.4	+	13	1663	c.1497G>T	c.(1495-1497)aaG>aaT	p.K499N	ACTN2_ENST00000542672.1_Missense_Mutation_p.K499N|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	499					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.K499N(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTACTCAGAAGAGGAGAGAAG	0.408000													8	38					0.000274275	0.000303346	0.004482	1	0
MCMDC2	157777	broad.mit.edu	37	8	67786809	67786809	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:67786809G>T	ENST00000422365.2	+	4	444	c.273G>T	c.(271-273)caG>caT	p.Q91H	MCMDC2_ENST00000396592.3_Missense_Mutation_p.Q91H|MCMDC2_ENST00000541540.1_Missense_Mutation_p.Q28H|MCMDC2_ENST00000313616.5_Missense_Mutation_p.Q91H|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000492775.1_Missense_Mutation_p.Q91H	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	91					DNA replication		ATP binding|DNA binding	p.Q91H(2)|p.Q86H(1)		endometrium(2)|kidney(2)|lung(5)	9						GACAATTGCAGACTGAAACGC	0.279000													4	26					1.23904e-05	1.46128e-05	0.000602	1	0
MFAP5	8076	broad.mit.edu	37	12	8813485	8813485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:8813485G>T	ENST00000359478.2	-	3	255	c.68C>A	c.(67-69)cCc>cAc	p.P23H	MFAP5_ENST00000433590.2_Missense_Mutation_p.P23H|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Missense_Mutation_p.P23H|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000535336.1_Missense_Mutation_p.P23H|MFAP5_ENST00000540087.1_Missense_Mutation_p.P23H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	23						microfibril	extracellular matrix structural constituent	p.P23H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GACCCCCAGGGGTATCCAGTC	0.423000													27	73					1.88708e-17	3.22349e-17	0.008361	1	0
BAZ1A	11177	broad.mit.edu	37	14	35253077	35253077	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:35253077T>A	ENST00000360310.1	-	15	2455	c.1888A>T	c.(1888-1890)Act>Tct	p.T630S	BAZ1A_ENST00000358716.4_Missense_Mutation_p.T598S|BAZ1A_ENST00000382422.2_Missense_Mutation_p.T630S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	630					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.T630S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAATCCCTAGTTGAAACTAGG	0.373000													22	70					0	0	0.010504	0	0
APCS	325	broad.mit.edu	37	1	159558125	159558125	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:159558125C>T	ENST00000255040.2	+	2	396	c.299C>T	c.(298-300)aCa>aTa	p.T100I		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	100	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.T100I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CACAAAGTTACATCCAAAGTT	0.428000													18	99					0	0	0.006122	0	0
ABCA12	26154	broad.mit.edu	37	2	215855534	215855534	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:215855534G>T	ENST00000272895.7	-	24	3735	c.3516C>A	c.(3514-3516)acC>acA	p.T1172T	ABCA12_ENST00000389661.4_Silent_p.T854T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1172					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T1172T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCAATGTTGGTGTTGTTGA	0.393000													11	61					0.000673444	0.00073634	0.008291	1	0
MASP1	5648	broad.mit.edu	37	3	186954283	186954283	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:186954283C>A	ENST00000296280.6	-	11	1601	c.1376G>T	c.(1375-1377)gGc>gTc	p.G459V	MASP1_ENST00000392472.2_Missense_Mutation_p.G346V|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000495249.1_Intron	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	458	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.G459V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGGAAGAGGCCAGGCTCAGC	0.602000													22	81					2.21704e-12	3.32555e-12	0.002780	1	0
RYR2	6262	broad.mit.edu	37	1	237780585	237780585	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:237780585G>T	ENST00000366574.2	+	38	6032		c.e38-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.?(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTCTCTTAGATGTGCCTAC	0.398000													7	18					2.0095e-06	2.45435e-06	0.001984	1	0
ORC1	4998	broad.mit.edu	37	1	52849096	52849096	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:52849096C>T	ENST00000371568.3	-	13	2227	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	ORC1_ENST00000371566.1_Missense_Mutation_p.R670Q	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	670	Necessary and sufficient for ORC complex assembly.				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R670Q(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCTACCAGTCGGCTGGACAC	0.547000													11	75					0	0	0.000978	0	0
ZNF554	115196	broad.mit.edu	37	19	2834217	2834217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:2834217G>T	ENST00000317243.5	+	5	1182	c.984G>T	c.(982-984)caG>caT	p.Q328H		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q328H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCCACCAGTGTGGGAAGG	0.493000													22	57					5.35356e-11	7.67077e-11	0.002780	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657499	72657499	+	RNA	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:72657499C>G	ENST00000425256.1	-	0	2412					NR_002164.1																						gtattcccaccttgtcgtatt	0.512000													54	210					0	0	0.003610	0	0
SEMG1	6406	broad.mit.edu	37	20	43836284	43836284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:43836284C>T	ENST00000372781.3	+	2	403	c.346C>T	c.(346-348)Cat>Tat	p.H116Y	SEMG1_ENST00000244069.6_Missense_Mutation_p.H116Y	NM_003007.3	NP_002998.1			semenogelin I									p.H116Y(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGCAGAGACCATGATAAATC	0.403000													9	66					0	0	0.004482	0	0
SLC9A3	6550	broad.mit.edu	37	5	488523	488523	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:488523C>T	ENST00000264938.3	-	3	592	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	SLC9A3_ENST00000514375.1_Missense_Mutation_p.A195T	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	195						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.A195T(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCCAGGACGGCCACCGGGTCC	0.637000													11	31					0	0	0.008291	0	0
BTBD10	84280	broad.mit.edu	37	11	13427330	13427330	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:13427330G>C	ENST00000278174.5	-	7	1127	c.882C>G	c.(880-882)ctC>ctG	p.L294L	BTBD10_ENST00000528120.1_Silent_p.L246L|BTBD10_ENST00000530907.1_Silent_p.L302L	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	294						nucleus		p.L294L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CCATGAGAGGGAGGATCATTT	0.413000													37	106					0	0	0.004878	0	0
SLC17A3	10786	broad.mit.edu	37	6	25861852	25861852	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:25861852C>A	ENST00000397060.4	-	5	734	c.625_splice	c.e5+1	p.G209_splice	SLC17A3_ENST00000361703.6_Splice_Site_p.G131_splice|SLC17A3_ENST00000360657.3_Splice_Site_p.G131_splice	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	131					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	p.G209*(1)|p.G131*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATGTCCTTACCTGATAAAGCA	0.423000													7	75					8.12818e-05	9.31152e-05	0.001984	1	0
S100A7L2	645922	broad.mit.edu	37	1	153409692	153409692	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:153409692T>A	ENST00000368725.2	-	3	180	c.181A>T	c.(181-183)Agc>Tgc	p.S61C		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2									p.S50C(1)|p.S61C(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCATGTCGCTTTTTTCCTGC	0.373000													18	84					0	0	0.008871	0	0
BEND7	222389	broad.mit.edu	37	10	13541840	13541840	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:13541840C>T	ENST00000341083.3	-	3	526	c.230G>A	c.(229-231)gGg>gAg	p.G77E	BEND7_ENST00000378605.3_Missense_Mutation_p.G77E|BEND7_ENST00000396900.2_Missense_Mutation_p.G129E|BEND7_ENST00000396898.2_Missense_Mutation_p.G129E	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	129							protein binding	p.G77E(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GCCATACTGCCCTGAGAACTG	0.567000													29	91					0	0	0.005443	0	0
CA11	770	broad.mit.edu	37	19	49147768	49147768	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:49147768C>T	ENST00000084798.4	-	3	880	c.201G>A	c.(199-201)cgG>cgA	p.R67R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	67						extracellular region		p.R67R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CGGGGCTCTGCCGCTTCCCCA	0.592000													3	27					0	0	0.004672	0	0
NEURL4	84461	broad.mit.edu	37	17	7230117	7230117	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:7230117C>T	ENST00000399464.2	-	4	1020	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	NEURL4_ENST00000570460.1_Silent_p.K313K|NEURL4_ENST00000315614.7_Silent_p.K335K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.K335K(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTCAGCCGTCTTATTATTGT	0.537000													18	45					0	0	0.006122	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035740	17035740	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:17035740A>G	ENST00000355661.3	-	2	105	c.95T>C	c.(94-96)cTc>cCc	p.L32P	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.L32P|PLEKHA7_ENST00000532079.1_Missense_Mutation_p.S11P|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.L32P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	32	WW 1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.L32P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGTGCAGCGGAGCTGGTCACT	0.796000													11	20					0	0	0.001368	0	0
RRAGC	64121	broad.mit.edu	37	1	39322631	39322631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:39322631T>C	ENST00000373001.3	-	2	537	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	121					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	p.M121V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAAAGTCCATTTGCCCAGGA	0.403000													49	165					0	0	0.003610	0	0
TMEFF2	23671	broad.mit.edu	37	2	192821012	192821012	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:192821012G>T	ENST00000392314.1	-	8	1229	c.838C>A	c.(838-840)Cat>Aat	p.H280N	TMEFF2_ENST00000272771.5_Missense_Mutation_p.H280N|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	280	EGF-like.					extracellular region|integral to membrane		p.H280N(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTGATAGAATGCTCACACTTC	0.363000													11	36					1.08611e-07	1.38652e-07	0.000978	1	0
SCNN1B	6338	broad.mit.edu	37	16	23360173	23360173	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:23360173G>C	ENST00000343070.2	+	2	429	c.253G>C	c.(253-255)Gta>Cta	p.V85L	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Missense_Mutation_p.V85L|SCNN1B_ENST00000568923.1_Missense_Mutation_p.V85L|SCNN1B_ENST00000307331.5_Missense_Mutation_p.V130L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	85					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.V85L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTCCCTCTCCGTAGGCTTCAA	0.617000													10	36					0	0	0.000978	0	0
RUFY2	55680	broad.mit.edu	37	10	70143611	70143611	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:70143611C>G	ENST00000388768.2	-	10	1314	c.988G>C	c.(988-990)Gat>Cat	p.D330H	RUFY2_ENST00000602465.1_Missense_Mutation_p.D295H|RUFY2_ENST00000399200.2_Missense_Mutation_p.D261H|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Missense_Mutation_p.D237H	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	344						nucleus	metal ion binding	p.D330H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TACATTTCATCTAGCCCCTGA	0.368000													30	97					0	0	0.008361	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130747	52130747	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:52130747C>A	ENST00000222107.4	-	6	1388	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G417V|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G417V|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G417V|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G417V			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	417					cell adhesion	integral to membrane	sugar binding	p.G417V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GCTCTGGGACCCATAGATGTT	0.637000													22	80					1.55795e-14	2.50944e-14	0.001882	1	0
TET2	54790	broad.mit.edu	37	4	106157611	106157611	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:106157611A>G	ENST00000513237.1	+	3	3372	c.2575A>G	c.(2575-2577)Aca>Gca	p.T859A	TET2_ENST00000394764.1_Missense_Mutation_p.T838A|TET2_ENST00000305737.2_Missense_Mutation_p.T838A|TET2_ENST00000413648.2_Missense_Mutation_p.T838A|TET2_ENST00000540549.1_Missense_Mutation_p.T838A|TET2_ENST00000380013.4_Missense_Mutation_p.T838A|TET2_ENST00000545826.1_Missense_Mutation_p.T838A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	838	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T838A(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCAAACAATACACACCTAGT	0.363000			"""Mis N, F"""		MDS								14	36					0	0	0.001855	0	0
ACAD11	84129	broad.mit.edu	37	3	132345611	132345611	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:132345611A>G	ENST00000264990.6	-	9	2092	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.V374A|ACAD11_ENST00000355458.3_Missense_Mutation_p.V374A	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11									p.V374A(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCGAGTCTGTACAAACAACTG	0.358000													11	37					0	0	0.008291	0	0
OR2J2	26707	broad.mit.edu	37	6	29142241	29142241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:29142241C>A	ENST00000377167.2	+	1	931	c.829C>A	c.(829-831)Ctc>Atc	p.L277I		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L277I(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTCATTGCCCTCTTTTATAC	0.443000													48	117					1.15181e-12	1.73313e-12	0.003610	1	0
PAK7	57144	broad.mit.edu	37	20	9543540	9543540	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:9543540G>A	ENST00000378429.3	-	7	2160	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	PAK7_ENST00000378423.1_Silent_p.T538T|PAK7_ENST00000353224.5_Silent_p.T538T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	538	Protein kinase.		T -> N (in a lung adenocarcinoma sample; somatic mutation).				ATP binding|protein binding|protein serine/threonine kinase activity	p.T538T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AAGCCTACCTGGTGTGAGTCA	0.463000													38	131					0	0	0.004878	0	0
OR12D2	26529	broad.mit.edu	37	6	29365229	29365229	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:29365229T>C	ENST00000383555.2	+	1	814	c.753T>C	c.(751-753)taT>taC	p.Y251Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y251Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTTTTCTATGCACCTGTTC	0.443000													26	190					0	0	0.005443	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:103143606G>C	ENST00000428762.1	-	52	8505	c.8346C>G	c.(8344-8346)ttC>ttG	p.F2782L	RELN_ENST00000343529.5_Missense_Mutation_p.F2782L|RELN_ENST00000424685.2_Missense_Mutation_p.F2782L|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000													13	54					0	0	0.001855	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377740	125377740	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:125377740G>T	ENST00000297913.2	+	1	793	c.724G>T	c.(724-726)Ggc>Tgc	p.G242C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TTCTACCTGCGGCTCCCACCT	0.557000													30	118					6.38683e-12	9.43286e-12	0.008361	1	0
DLC1	10395	broad.mit.edu	37	8	13357525	13357525	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:13357525C>A	ENST00000276297.4	-	2	465	c.56G>T	c.(55-57)gGa>gTa	p.G19V	DLC1_ENST00000511869.1_Missense_Mutation_p.G19V|DLC1_ENST00000316609.5_Missense_Mutation_p.G19V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	19					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.G19V(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAAGGCTGTCCCATCCAGTG	0.418000													19	116					2.35188e-11	3.40031e-11	0.006122	1	0
C8orf31	286122	broad.mit.edu	37	8	144124596	144124596	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:144124596G>A	ENST00000395172.1	+	3	455	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	35								p.A35T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TACGCACAGGGCCCAGGGGCT	0.647000													8	49					0	0	0.003080	0	0
ABCD2	225	broad.mit.edu	37	12	39947896	39947896	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:39947896C>T	ENST00000308666.3	-	10	2176	c.2041G>A	c.(2041-2043)Gga>Aga	p.G681R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	681	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G681R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGCCAACCTCCTTCACCATCA	0.338000													10	66					0	0	0.001368	0	0
ERBB4	2066	broad.mit.edu	37	2	212522553	212522553	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:212522553C>A	ENST00000342788.4	-	16	2182	c.1871_splice	c.e16-1	p.G624_splice	ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Splice_Site_p.G624_splice	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	624	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.G624G(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GACCGTTACACCTGCAGGCAA	0.468000										TSP Lung(8;0.080)			33	97					8.4185e-14	1.32924e-13	0.002445	1	0
DNAH2	146754	broad.mit.edu	37	17	7696322	7696322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:7696322C>A	ENST00000572933.1	+	48	8828	c.7368C>A	c.(7366-7368)agC>agA	p.S2456R	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2456R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2456	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S2456R(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGTGCAGAGCATCATTGAGA	0.512000													20	46					1.15919e-05	1.37385e-05	0.008871	1	0
ARID4A	5926	broad.mit.edu	37	14	58772783	58772783	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:58772783A>G	ENST00000355431.3	+	5	600	c.227A>G	c.(226-228)cAg>cGg	p.Q76R	ARID4A_ENST00000395168.3_Missense_Mutation_p.Q76R|ARID4A_ENST00000348476.3_Missense_Mutation_p.Q76R|ARID4A_ENST00000431317.2_Missense_Mutation_p.Q76R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	76					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q76R(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATCTTTTCAGGAAGCTATT	0.348000													20	99					0	0	0.002299	0	0
PIPSL	266971	broad.mit.edu	37	10	95720012	95720012	+	RNA	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:95720012G>A	ENST00000480546.1	-	0	1285					NR_002319.2																						ATAGAAGCCTGGGCGATGCAC	0.468000													13	138					0	0	0.002450	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2321975	2321975	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:2321975C>T	ENST00000290974.2	-	7	1064	c.725G>A	c.(724-726)gGa>gAa	p.G242E	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G212E|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G172E	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	242					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.G242E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTTCAGAGGTCCGTCCGCATA	0.602000													6	31					0	0	0.001168	0	0
COL1A1	1277	broad.mit.edu	37	17	48267222	48267222	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:48267222G>A	ENST00000225964.5	-	37	2729	c.2611C>T	c.(2611-2613)Cct>Tct	p.P871S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	871	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.P871S(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ATACTCACAGGGGGACCAGCG	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	20					0	0	0.001984	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72490001	72490001	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:72490001C>A	ENST00000373208.1	+	6	1098	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	ADAMTS14_ENST00000373207.1_Silent_p.P366P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	366	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P366P(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACTTTGGGCCCTCAGGTATGC	0.632000													4	26					0.00909568	0.00961658	0.009096	1	0
MAATS1	89876	broad.mit.edu	37	3	119445029	119445029	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:119445029C>A	ENST00000273390.5	+	7	771	c.694C>A	c.(694-696)Cca>Aca	p.P232T		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1									p.P232T(1)									TCGGGGTCTCCCAGCAGGACA	0.542000													7	27					0.000157383	0.000177751	0.003080	1	0
H3F3B	3021	broad.mit.edu	37	17	73774911	73774911	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:73774911C>T	ENST00000254810.4	-	3	394	c.262G>A	c.(262-264)Gca>Aca	p.A88T	H3F3B_ENST00000591890.1_Missense_Mutation_p.A88T|H3F3B_ENST00000589599.1_Missense_Mutation_p.A88T|H3F3B_ENST00000592643.1_Intron|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000587560.1_Missense_Mutation_p.A88T|H3F3B_ENST00000586607.1_Missense_Mutation_p.A88T	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	88					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.A88T(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGATGGCTGCGCTCTGAAAC	0.602000											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	0.000978	0	0
AEBP1	165	broad.mit.edu	37	7	44150526	44150526	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:44150526C>G	ENST00000223357.3	+	13	1805	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K	AEBP1_ENST00000450684.2_Missense_Mutation_p.N43K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	500	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N500K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TTCATGGGAACGTGGACAAGG	0.622000													5	49					0	0	0.000602	0	0
HNF4A	3172	broad.mit.edu	37	20	42984471	42984471	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:42984471G>C	ENST00000457232.1	+	1	31	c.27G>C	c.(25-27)ggG>ggC	p.G9G		NM_001030003.2|NM_175914.4	NP_001025174.1|NP_787110.2	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	157					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.G9G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCCCTCGGGGCTCCAGTGG	0.682000													4	28					0	0	0.009096	0	0
MCF2	4168	broad.mit.edu	37	X	138708796	138708796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:138708796C>T	ENST00000520602.1	-	8	1023	c.738G>A	c.(736-738)tgG>tgA	p.W246*	MCF2_ENST00000370576.4_Nonsense_Mutation_p.W186*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.W331*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.W147*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.W186*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.W186*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.W246*|MCF2_ENST00000414978.1_Nonsense_Mutation_p.W246*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	186					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.W186*(2)|p.W246*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAATAGTTTGCCAGTCACCAC	0.338000													4	162					0	0	0.000602	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949599	235949599	+	Silent	SNP	G	G	A	rs148142077	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:235949599G>A	ENST00000409212.1	+	4	693	c.186G>A	c.(184-186)gcG>gcA	p.A62A	SH3BP4_ENST00000344528.4_Silent_p.A62A|SH3BP4_ENST00000392011.2_Silent_p.A62A			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	62	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.A62A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AAGTGATTGCGATCAAGGACT	0.517000													4	174					0	0	0.000602	0	0
OR5M10	390167	broad.mit.edu	37	11	56344790	56344790	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:56344790C>A	ENST00000526812.2	-	1	473	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGTTCTTGGACATCCTGGAAC	0.453000													23	97					3.08376e-08	4.0223e-08	0.003330	1	0
LRP1B	53353	broad.mit.edu	37	2	141299376	141299376	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:141299376G>T	ENST00000389484.3	-	44	8330	c.7359C>A	c.(7357-7359)atC>atA	p.I2453I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2453					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.I2453I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAACAGCTATGATTCCCATTG	0.378000										TSP Lung(27;0.18)			44	100					2.81731e-22	5.06482e-22	0.003610	1	0
DCX	1641	broad.mit.edu	37	X	110574146	110574146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:110574146C>A	ENST00000356915.2	-	5	994	c.932G>T	c.(931-933)gGt>gTt	p.G311V	DCX_ENST00000338081.3_Splice_Site|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Splice_Site|DCX_ENST00000356220.3_Missense_Mutation_p.G311V	NM_001195553.1|NM_178152.2|NM_178153.2	NP_001182482.1|NP_835365.1|NP_835366.1	O43602	DCX_HUMAN	doublecortin	391	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.G311V(1)|p.?(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGTCGTTACCTGAGTCAGC	0.522000													42	72					1.56793e-16	2.65938e-16	0.003610	1	0
MYH2	4620	broad.mit.edu	37	17	10430373	10430373	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:10430373C>A	ENST00000245503.5	-	29	4256	c.3871_splice	c.e29-1	p.G1291_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.G1291_splice|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1291					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G1291V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAAAACTCACCTGATGGACA	0.378000													7	66					2.62144e-13	4.07214e-13	0.004482	1	0
RPTN	126638	broad.mit.edu	37	1	152127701	152127701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:152127701C>A	ENST00000316073.3	-	3	1938	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	625	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.G625V(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTTCCTGTCCTGGAGTCTG	0.498000													38	234					5.71845e-15	9.3046e-15	0.005524	1	0
IP6K2	51447	broad.mit.edu	37	3	48726009	48726009	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:48726009G>A	ENST00000328631.5	-	6	1201	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	326					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.F326F(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AGCTTGAGTAGAAGCGGTAGG	0.572000													17	32					0	0	0.006122	0	0
NIM1K	167359	broad.mit.edu	37	5	43280356	43280356	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:43280356T>C	ENST00000512796.1	+	4	2335	c.836T>C	c.(835-837)cTa>cCa	p.L279P	NIM1_ENST00000326035.2_Missense_Mutation_p.L279P			Q8IY84	NIM1_HUMAN		279	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L279P(1)									GTGGCCAAACTAAAAAAGAGC	0.557000													4	78					0	0	0.009096	0	0
MARS2	92935	broad.mit.edu	37	2	198571261	198571261	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:198571261G>T	ENST00000282276.6	+	1	1175	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	378					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G378C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCTTCGGCAGGGCGTCCCCAA	0.537000													70	321					7.33394e-39	1.35396e-38	0.003610	1	0
DNTTIP2	30836	broad.mit.edu	37	1	94337787	94337787	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:94337787T>C	ENST00000436063.2	-	5	1965	c.1908A>G	c.(1906-1908)gaA>gaG	p.E636E		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E636E(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTTTTGTCGTTCTTTCTGAA	0.338000													28	147					0	0	0.004656	0	0
EP400	57634	broad.mit.edu	37	12	132512719	132512719	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:132512719G>A	ENST00000333577.4	+	28	5484	c.5375G>A	c.(5374-5376)cGt>cAt	p.R1792H	EP400_ENST00000389561.2_Missense_Mutation_p.R1756H|EP400_ENST00000389562.2_Missense_Mutation_p.R1755H|EP400_ENST00000332482.4_Missense_Mutation_p.R1719H|EP400_ENST00000330386.6_Missense_Mutation_p.R1675H			Q96L91	EP400_HUMAN	E1A binding protein p400	1792					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.R1755H(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGGATGGCCGTCGTGGGAAG	0.577000													4	123					0	0	0.009096	0	0
IGFL1	374918	broad.mit.edu	37	19	46733631	46733631	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:46733631C>T	ENST00000437936.1	+	3	203	c.180C>T	c.(178-180)gtC>gtT	p.V60V	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	60						extracellular space	protein binding	p.V60V(1)		lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		ATGATGCCGTCGTGCCCTTGG	0.562000													36	123					0	0	0.004289	0	0
RAB26	25837	broad.mit.edu	37	16	2203211	2203211	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:2203211C>A	ENST00000210187.6	+	8	816	c.656C>A	c.(655-657)aCa>aAa	p.T219K	RAB26_ENST00000541451.1_Missense_Mutation_p.T153K	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	219					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding	p.T153K(1)		kidney(1)|large_intestine(1)|lung(3)	5						TTGGCCTTCACAGCCATAGCA	0.602000													14	26					3.27435e-08	4.24781e-08	0.002450	1	0
NPAP1	23742	broad.mit.edu	37	15	24922707	24922707	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:24922707C>A	ENST00000329468.2	+	1	2167	c.1693C>A	c.(1693-1695)Cta>Ata	p.L565I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.L565I(1)									ATCTGCCCACCTAACCTCACA	0.483000													39	95					1.03484e-13	1.61799e-13	0.005524	1	0
SULT1B1	27284	broad.mit.edu	37	4	70596264	70596264	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:70596264G>T	ENST00000310613.2	-	7	1030	c.733C>A	c.(733-735)Cca>Aca	p.P245T		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	245					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol		p.P245T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACTGTAGTTGGTAGATGTGTA	0.363000													17	55					1.00905e-13	1.58282e-13	0.008871	1	0
DYSF	8291	broad.mit.edu	37	2	71838610	71838610	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:71838610C>T	ENST00000258104.3	+	38	4298	c.4021C>T	c.(4021-4023)Ctg>Ttg	p.L1341L	DYSF_ENST00000429174.2_Silent_p.L1341L|DYSF_ENST00000394120.2_Silent_p.L1342L|DYSF_ENST00000410041.1_Silent_p.L1359L|DYSF_ENST00000409582.3_Silent_p.L1358L|DYSF_ENST00000409744.1_Silent_p.L1328L|DYSF_ENST00000409762.1_Silent_p.L1358L|DYSF_ENST00000409366.1_Silent_p.L1342L|DYSF_ENST00000410020.3_Silent_p.L1359L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.L1373L|DYSF_ENST00000413539.2_Silent_p.L1372L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1341			L -> P (in LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.L1341L(1)|p.L1359L(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCATGGGGCCTGCGGAACAT	0.622000													10	53					0	0	0.006214	0	0
PIK3CB	5291	broad.mit.edu	37	3	138474811	138474811	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:138474811T>G	ENST00000477593.1	-	3	255	c.182A>C	c.(181-183)aAg>aCg	p.K61T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K61T			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	61	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K61T(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GTGAACTTGCTTCCATAACAT	0.368000													9	51					0	0	0.006214	0	0
PLAT	5327	broad.mit.edu	37	8	42038129	42038129	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:42038129G>A	ENST00000220809.4	-	10	1220	c.964C>T	c.(964-966)Cac>Tac	p.H322Y	PLAT_ENST00000429089.2_Missense_Mutation_p.H322Y|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Missense_Mutation_p.H196Y|PLAT_ENST00000352041.3_Missense_Mutation_p.H276Y|PLAT_ENST00000519510.1_Missense_Mutation_p.H259Y|PLAT_ENST00000524009.1_Missense_Mutation_p.H233Y	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	322	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.H322Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGCCAGGGGTGGGAGGCGATG	0.632000													11	75					0	0	0.000978	0	0
VPS13A	23230	broad.mit.edu	37	9	79980489	79980489	+	Splice_Site	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:79980489G>A	ENST00000360280.3	+	60	8585	c.8325_splice	c.e60+1	p.K2775_splice	VPS13A_ENST00000376636.3_Splice_Site_p.K2736_splice|VPS13A_ENST00000376634.4_Splice_Site_p.K2775_splice|VPS13A_ENST00000357409.5_Splice_Site_p.K2775_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2775					Golgi to endosome transport|protein transport	intracellular	protein binding	p.K2775K(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCTATCAAGGTAGGAGAAA	0.279000													8	32					0	0	0.004482	0	0
ANK2	287	broad.mit.edu	37	4	114278125	114278125	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:114278125G>T	ENST00000357077.4	+	38	8404	c.8351G>T	c.(8350-8352)aGc>aTc	p.S2784I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S2751I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2751					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S2784I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTCCTAGCAGCTCAGCTGCT	0.473000													21	42					2.54575e-18	4.37978e-18	0.010504	1	0
BEST1	7439	broad.mit.edu	37	11	61725728	61725728	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:61725728C>A	ENST00000449131.2	+	6	731	c.645C>A	c.(643-645)gtC>gtA	p.V215V	BEST1_ENST00000378042.3_Silent_p.V215V|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Silent_p.V275V|BEST1_ENST00000526988.1_Silent_p.V169V|BEST1_ENST00000534553.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	275					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.V275V(2)|p.V215V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TTGTGCCCGTCTTCACGTTCC	0.607000													11	91					1.58986e-06	1.94677e-06	0.008291	1	0
PKP4	8502	broad.mit.edu	37	2	159389749	159389749	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:159389749G>T	ENST00000389757.3	+	2	178	c.53G>T	c.(52-54)cGc>cTc	p.R18L	PKP4_ENST00000389759.3_Missense_Mutation_p.R18L	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	18					cell adhesion	desmosome	protein binding	p.R18L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACAGACCCGCCAGGAAGCT	0.567000										HNSCC(62;0.18)			6	24					1.26484e-09	1.71504e-09	0.003080	1	0
TACR3	6870	broad.mit.edu	37	4	104577453	104577453	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:104577453G>A	ENST00000304883.2	-	3	926	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	262						integral to plasma membrane	tachykinin receptor activity	p.I262I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAATACCCATGATGAGCAATG	0.373000													29	72					0	0	0.002445	0	0
RYR1	6261	broad.mit.edu	37	19	38937347	38937347	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:38937347G>A	ENST00000355481.4	+	9	870	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RYR1_ENST00000359596.3_Missense_Mutation_p.E247K|RYR1_ENST00000360985.3_Missense_Mutation_p.E247K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	247	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E247K(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGTCTACTATGAGGGGGGAGC	0.597000													9	59					0	0	0.008291	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388095	90388095	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:90388095C>A	ENST00000354530.2	+	0	166					NR_027917.1													p.L56I(1)									GGAACCTCTGCTTCATGACAT	0.483000													9	38					7.48243e-07	9.32874e-07	0.006214	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24959147	24959147	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:24959147C>A	ENST00000396432.2	-	3	729	c.243_splice	c.e3+1	p.K81_splice		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	80	PDZ.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTCTCTTACCTTATATGAAA	0.373000													13	33					5.50884e-06	6.6106e-06	0.001368	1	0
MPPED1	758	broad.mit.edu	37	22	43870647	43870647	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:43870647C>T	ENST00000417669.1	+	4	882	c.438C>T	c.(436-438)atC>atT	p.I146I	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000414469.2_Silent_p.I40I|MPPED1_ENST00000538182.1_Silent_p.I179I|MPPED1_ENST00000443721.1_Silent_p.I146I|MPPED1_ENST00000542779.1_Silent_p.I146I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	146							hydrolase activity	p.I146I(2)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGATCGTGATCGCAGGCAACC	0.567000													14	73					0	0	0.001855	0	0
LILRB5	10990	broad.mit.edu	37	19	54760090	54760090	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:54760090C>T	ENST00000450632.1	-	4	521	c.444G>A	c.(442-444)gaG>gaA	p.E148E	LILRB5_ENST00000316219.5_Silent_p.E157E|LILRB5_ENST00000449561.2_Silent_p.E157E|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	157	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.E148E(1)|p.E157E(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTTCTTCCTCAACAAGAA	0.582000													28	73					0	0	0.005443	0	0
IGHD4-11	28495	broad.mit.edu	37	14	106369488	106369488	+	RNA	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:106369488C>T	ENST00000431440.2	-	0	1																											TTACTGTAGTCACACAGCAGG	0.582000													46	127					0	0	0.003610	0	0
CHST3	9469	broad.mit.edu	37	10	73766983	73766983	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:73766983C>G	ENST00000373115.4	+	3	631	c.194C>G	c.(193-195)aCc>aGc	p.T65S		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	65					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.T65S(1)		endometrium(1)|lung(5)	6						GCCAACAGCACCGACCCAGCC	0.577000													14	25					0	0	0.004990	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996301	19996301	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:19996301G>T	ENST00000391403.2	-	1	1577	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	492						integral to membrane		p.P492T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CAACCCAATGGTGAGGGACCA	0.438000													70	219					3.47267e-51	6.46079e-51	0.003610	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790843	133790843	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:133790843G>A	ENST00000321016.8	-	18	3007	c.2777C>T	c.(2776-2778)cCa>cTa	p.P926L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P926L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	926	Pro-rich.					integral to membrane|plasma membrane		p.P926L(1)|p.P382L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTGTATGCTGGTGGTGGCAG	0.706000													21	71					0	0	0.010504	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474750	140474750	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:140474750A>T	ENST00000194155.4	+	1	524	c.376A>T	c.(376-378)Agg>Tgg	p.R126W		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		126	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R126W(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTACGGATTAGGGACGTAAA	0.463000													16	49					0	0	0.004007	0	0
VAV3	10451	broad.mit.edu	37	1	108309106	108309106	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:108309106G>T	ENST00000370056.4	-	8	1058	c.784C>A	c.(784-786)Cag>Aag	p.Q262K	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.Q197K|VAV3_ENST00000527011.1_Missense_Mutation_p.Q262K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	262	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.Q262K(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TACAAGTTCTGGTCATTTTTA	0.308000													7	40					5.18039e-06	6.24771e-06	0.003080	1	0
PENK	5179	broad.mit.edu	37	8	57358364	57358364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:57358364G>A	ENST00000518770.1	-	3	302	c.149C>T	c.(148-150)gCg>gTg	p.A50V	PENK_ENST00000451791.2_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron			P01210	PENK_HUMAN	proenkephalin	47					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCGCCGCGCGCAACACTCAC	0.682000													8	64					0	0	0.004482	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916250	86916250	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:86916250G>T	ENST00000395184.1	+	9	1909	c.1443G>T	c.(1441-1443)acG>acT	p.T481T	ARHGAP24_ENST00000395183.2_Silent_p.T386T|ARHGAP24_ENST00000264343.4_Silent_p.T388T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	481					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T388T(1)|p.T481T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AGAATGGAACGGTGCGCATGG	0.522000													24	77					9.95505e-16	1.65343e-15	0.002299	1	0
TMEM155	132332	broad.mit.edu	37	4	122682832	122682832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:122682832C>A	ENST00000337677.5	-	5	631	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	TMEM155_ENST00000394396.1_Nonsense_Mutation_p.E25*|TMEM155_ENST00000394394.1_Nonsense_Mutation_p.E25*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	25						extracellular region		p.E25*(1)		breast(1)|lung(5)	6						GGCATCAGTTCTGCATCTACA	0.413000													10	34					2.17888e-05	2.55712e-05	0.006214	1	0
PSMC6	5706	broad.mit.edu	37	14	53173934	53173934	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:53173934C>T	ENST00000445930.2	+	1	45	c.39C>T	c.(37-39)ctC>ctT	p.L13L	PSMC6_ENST00000606149.1_5'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.L13L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GACGGCTTCTCATCATGGCGG	0.622000													16	48					0	0	0.004007	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540577	94540577	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:94540577T>A	ENST00000289495.5	+	1	1368	c.1152T>A	c.(1150-1152)ccT>ccA	p.P384P	PPP1R9A_ENST00000433881.1_Silent_p.P384P|PPP1R9A_ENST00000424654.1_Silent_p.P384P|PPP1R9A_ENST00000433360.1_Silent_p.P384P|PPP1R9A_ENST00000456331.2_Silent_p.P384P|PPP1R9A_ENST00000340694.4_Silent_p.P384P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	384						cell junction|synapse|synaptosome	actin binding	p.P384P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGAAGTACCTGAAGATTCAA	0.443000										HNSCC(28;0.073)			5	47					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	31039383	31039383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:31039383G>T	ENST00000355537.3	+	4	3004	c.2857G>T	c.(2857-2859)Gat>Tat	p.D953Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	953					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D953Y(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGGAGTGGATGGTGGTGA	0.542000													14	181					4.93089e-13	7.58599e-13	0.002450	1	0
RGS21	431704	broad.mit.edu	37	1	192335066	192335066	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:192335066G>T	ENST00000417209.2	+	5	445	c.271G>T	c.(271-273)Ggt>Tgt	p.G91C		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	91	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.G91C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CATTGACTTCGGTACCAGAGA	0.308000													20	113					1.37878e-21	2.45117e-21	0.003330	1	0
TP53	7157	broad.mit.edu	37	17	7577587	7577587	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:7577587T>A	ENST00000420246.2	-	7	826	c.694A>T	c.(694-696)Atc>Ttc	p.I232F	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.I232F|TP53_ENST00000359597.4_Missense_Mutation_p.I232F|TP53_ENST00000445888.2_Missense_Mutation_p.I232F|TP53_ENST00000269305.4_Missense_Mutation_p.I232F|TP53_ENST00000455263.2_Missense_Mutation_p.I232F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I232F(10)|p.0?(8)|p.?(5)|p.I232V(5)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.I232L(1)|p.I139F(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*15(1)|p.T231del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTGTAGTGGATGGTGGTACAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	51					0	0	0.004990	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056110	58056110	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:58056110T>A	ENST00000556826.1	-	3	647	c.411A>T	c.(409-411)tcA>tcT	p.S137S	SLC35F4_ENST00000339762.6_Silent_p.S173S|SLC35F4_ENST00000554729.1_Silent_p.S14S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4									p.S173S(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGATGATACTGACAAGATGA	0.418000													8	49					0	0	0.008291	0	0
KCNA7	3743	broad.mit.edu	37	19	49573357	49573357	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:49573357C>A	ENST00000221444.1	-	2	1689	c.1334G>T	c.(1333-1335)tGg>tTg	p.W445L		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.W445L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		TGGGGGTGCCCAGAGTGGAGG	0.627000													20	54					1.50039e-11	2.18902e-11	0.001882	1	0
UGT2B11	10720	broad.mit.edu	37	4	70080232	70080232	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:70080232G>T	ENST00000446444.1	-	1	217	c.209C>A	c.(208-210)tCc>tAc	p.S70Y	RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	70					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S70Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTAAGAGTGGATGCATCATT	0.363000													27	164					5.91797e-21	1.0482e-20	0.002445	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135106639	135106639	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:135106639G>A	ENST00000368563.2	-	7	1284	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	TUBGCP2_ENST00000252936.3_Silent_p.L310L|TUBGCP2_ENST00000543663.1_Silent_p.L338L|TUBGCP2_ENST00000417178.2_Silent_p.L180L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	310					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.L310L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCTGCTCCAGCTGTGACACC	0.617000													18	48					0	0	0.004990	0	0
C10orf2	56652	broad.mit.edu	37	10	102753055	102753055	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:102753055G>A	ENST00000311916.2	+	5	2028	c.1843G>A	c.(1843-1845)Ggt>Agt	p.G615S	C10orf2_ENST00000370228.1_3'UTR|C10orf2_ENST00000473656.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	615	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.G615S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGATGTAGGTGTCTTCCC	0.522000													21	132					0	0	0.002780	0	0
CHD7	55636	broad.mit.edu	37	8	61707560	61707560	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:61707560C>T	ENST00000423902.2	+	4	2591	c.2112C>T	c.(2110-2112)gaC>gaT	p.D704D	CHD7_ENST00000525508.1_Silent_p.D704D|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	704	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.D704D(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAACCTGACTCAGAAGCAA	0.383000													20	94					0	0	0.008871	0	0
MED13	9969	broad.mit.edu	37	17	60088407	60088407	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:60088407C>A	ENST00000397786.2	-	9	1547	c.1471G>T	c.(1471-1473)Gat>Tat	p.D491Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	491					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.D491Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGCTGAATCTGCGTCCATG	0.453000													12	70					3.07112e-06	3.72257e-06	0.000978	1	0
MAP2K1	5604	broad.mit.edu	37	15	66777401	66777401	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:66777401T>C	ENST00000307102.5	+	7	1298	c.767T>C	c.(766-768)aTg>aCg	p.M256T	MAP2K1_ENST00000566326.1_Missense_Mutation_p.M80T	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	256	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M256T(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CTGGTAGAGATGGCGGTTGGG	0.567000													23	93					0	0	0.003330	0	0
CUBN	8029	broad.mit.edu	37	10	16975227	16975227	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:16975227C>A	ENST00000377833.4	-	40	6048	c.5983G>T	c.(5983-5985)Ggc>Tgc	p.G1995C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1995	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGGCCAGCCCGGGGAGAAG	0.512000													17	50					1.67942e-08	2.21461e-08	0.006122	1	0
CES3	23491	broad.mit.edu	37	16	67006842	67006842	+	Missense_Mutation	SNP	G	G	C	rs149091298		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:67006842G>C	ENST00000303334.4	+	13	1677	c.1606G>C	c.(1606-1608)Gga>Cga	p.G536R	CES3_ENST00000543856.1_Missense_Mutation_p.G175R|CES3_ENST00000394037.1_Missense_Mutation_p.G533R	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	536						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.G536R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GCCACGGGCCGGACAGAAGTT	0.577000													22	70					0	0	0.002780	0	0
FAM135B	51059	broad.mit.edu	37	8	139165277	139165277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:139165277C>A	ENST00000395297.1	-	13	1611	c.1441G>T	c.(1441-1443)Gag>Tag	p.E481*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	481								p.E481*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCACCTGGCTCTGGACACCTT	0.393000										HNSCC(54;0.14)			16	89					6.29468e-14	9.97178e-14	0.004878	1	0
TNIK	23043	broad.mit.edu	37	3	170858263	170858263	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:170858263C>A	ENST00000436636.2	-	13	1601	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	TNIK_ENST00000470834.1_Missense_Mutation_p.Q419H|TNIK_ENST00000488470.1_Missense_Mutation_p.Q419H|TNIK_ENST00000475336.1_Missense_Mutation_p.Q419H|TNIK_ENST00000341852.6_Missense_Mutation_p.Q419H|TNIK_ENST00000357327.5_Missense_Mutation_p.Q419H|TNIK_ENST00000538048.1_Missense_Mutation_p.Q419H|TNIK_ENST00000460047.1_Missense_Mutation_p.Q419H|TNIK_ENST00000284483.8_Missense_Mutation_p.Q419H|TNIK_ENST00000369326.5_Missense_Mutation_p.Q419H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	419	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Q419H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTCCCTCTCCTGCTGCTTCC	0.647000													20	168					6.44725e-10	8.81675e-10	0.002299	1	0
NPBWR1	2831	broad.mit.edu	37	8	53852566	53852566	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:53852566G>A	ENST00000331251.3	+	1	1576	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	33					synaptic transmission	plasma membrane	opioid receptor activity|protein binding	p.P33P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGCCGCTGCCGGCGCCGCTGG	0.716000													6	29					0	0	0.001984	0	0
DNAH7	56171	broad.mit.edu	37	2	196681688	196681688	+	Splice_Site	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:196681688C>A	ENST00000312428.6	-	51	9526		c.e51-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTAACTGCCTGGAATAAAA	0.274000													10	37					0.00621372	0.00661327	0.006214	1	0
PNMAL1	55228	broad.mit.edu	37	19	46973123	46973123	+	Silent	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:46973123C>T	ENST00000313683.10	-	2	1475	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	390								p.K390K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CTGGCCCTTTCTTTGGCATCA	0.597000													10	96					0	0	0.006214	0	0
LPCAT1	79888	broad.mit.edu	37	5	1489886	1489886	+	Missense_Mutation	SNP	G	G	A	rs147744743	byFrequency	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:1489886G>A	ENST00000283415.3	-	4	713	c.581C>T	c.(580-582)gCg>gTg	p.A194V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	194					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	p.A194V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GTTGGACTGCGCCCGTCTCTT	0.507000													6	388					0	0	0.001168	0	0
ANKIB1	54467	broad.mit.edu	37	7	91980363	91980363	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:91980363A>C	ENST00000265742.3	+	8	1561	c.1185A>C	c.(1183-1185)gtA>gtC	p.V395V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	395							protein binding|zinc ion binding	p.V395V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGAAAGTGTAGTTTCAAAGG	0.338000													4	14					0	0	0.000602	0	0
SRPK2	6733	broad.mit.edu	37	7	104782778	104782778	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:104782778T>A	ENST00000357311.3	-	10	1358	c.1187A>T	c.(1186-1188)cAg>cTg	p.Q396L	SRPK2_ENST00000393651.3_Missense_Mutation_p.Q407L|SRPK2_ENST00000489828.1_Missense_Mutation_p.Q396L	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	396	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.Q396L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCCAGTTGCTGCTCCAGTGA	0.428000													45	173					0	0	0.002852	0	0
AADACL3	126767	broad.mit.edu	37	1	12785399	12785399	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:12785399G>T	ENST00000332530.3	+	3	505	c.279G>T	c.(277-279)ctG>ctT	p.L93L	AADACL3_ENST00000359318.5_Silent_p.L163L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	163							hydrolase activity	p.L163L(1)|p.L93L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGATCCTGATCTATGCCA	0.512000													41	155					8.69298e-16	1.44883e-15	0.006999	1	0
OR56B4	196335	broad.mit.edu	37	11	6129809	6129809	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:6129809C>A	ENST00000316529.3	+	1	896	c.801C>A	c.(799-801)caC>caA	p.H267Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H267Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCACACACCTTGCAGAGA	0.512000													26	116					7.41945e-09	9.83795e-09	0.005443	1	0
CACNA1E	777	broad.mit.edu	37	1	181708384	181708384	+	Silent	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:181708384T>A	ENST00000526775.1	+	24	3822	c.3657T>A	c.(3655-3657)gcT>gcA	p.A1219A	CACNA1E_ENST00000367573.2_Silent_p.A1238A|CACNA1E_ENST00000358338.5_Silent_p.A1170A|CACNA1E_ENST00000357570.5_Silent_p.A1189A|CACNA1E_ENST00000367570.1_Silent_p.A1238A|CACNA1E_ENST00000360108.3_Silent_p.A1219A|CACNA1E_ENST00000367567.4_Silent_p.A845A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1238					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1238A(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCCTTTGCTCTGGCGTAAG	0.502000													87	146					0	0	0.003610	0	0
KANK4	163782	broad.mit.edu	37	1	62713183	62713183	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:62713183G>T	ENST00000371153.4	-	9	3222	c.2844C>A	c.(2842-2844)ctC>ctA	p.L948L	KANK4_ENST00000371150.1_Silent_p.L304L|KANK4_ENST00000317477.4_Silent_p.L86L|KANK4_ENST00000354381.3_Silent_p.L320L	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	948								p.L949M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTGTGCCAGGAGCAGCCGCA	0.582000													10	54					1.5739e-10	2.21546e-10	0.004007	1	0
LRFN2	57497	broad.mit.edu	37	6	40400624	40400624	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:40400624C>A	ENST00000338305.6	-	2	771	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	77						cell junction|integral to membrane|postsynaptic membrane		p.G77W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACCAGCCCCGTCATGTTG	0.592000													14	42					0.000219431	0.000246091	0.002450	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555055	44555055	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:44555055G>C	ENST00000330682.2	-	1	1394	c.1159C>G	c.(1159-1161)Cga>Gga	p.R387G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	387	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R387G(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTGTCTCTCGAGCGAGTGCG	0.567000													43	2181					0	0	0.010504	0	0
AKAP6	9472	broad.mit.edu	37	14	33147594	33147594	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:33147594G>T	ENST00000280979.4	+	8	2978	c.2808G>T	c.(2806-2808)caG>caT	p.Q936H	AKAP6_ENST00000557272.1_Missense_Mutation_p.Q936H|AKAP6_ENST00000557354.1_Missense_Mutation_p.Q936H	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	936					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.Q936H(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAGCGAGCAGTATACCAGCA	0.433000													11	47					6.40141e-05	7.40404e-05	0.000978	1	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													3	64					0	0	0.004672	0	0
OR14I1	401994	broad.mit.edu	37	1	248845146	248845146	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:248845146C>A	ENST00000342623.3	-	1	483	c.460G>T	c.(460-462)Gca>Tca	p.A154S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A154S(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGGACGGCTGCGTAGGAAAAG	0.542000													11	44					1.08611e-07	1.38652e-07	0.000978	1	0
HEPHL1	341208	broad.mit.edu	37	11	93808458	93808458	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:93808458C>A	ENST00000315765.9	+	9	1631	c.1623C>A	c.(1621-1623)ttC>ttA	p.F541L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	541	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.F545L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATCTTTACTTCTCAGCAGTTG	0.512000													16	37					2.32078e-09	3.12915e-09	0.003163	1	0
ANKEF1	63926	broad.mit.edu	37	20	10025083	10025083	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:10025083G>T	ENST00000378380.3	+	4	917	c.588G>T	c.(586-588)ggG>ggT	p.G196G	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.G196G|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.G196G(1)									CAAGAGAAGGGGTAGTGGAAA	0.448000													30	141					1.56442e-22	2.82301e-22	0.002445	1	0
REV3L	5980	broad.mit.edu	37	6	111694418	111694418	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:111694418A>G	ENST00000435970.1	-	15	5722	c.4906T>C	c.(4906-4908)Tca>Cca	p.S1636P	REV3L_ENST00000368805.1_Missense_Mutation_p.S1714P|REV3L_ENST00000358835.3_Missense_Mutation_p.S1714P|REV3L_ENST00000368802.3_Missense_Mutation_p.S1714P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1714					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.S1636P(1)|p.S1714P(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATGAGGCTGAGTCTGTGGTA	0.383000								DNA polymerases (catalytic subunits)					16	87					0	0	0.004990	0	0
ZNF772	400720	broad.mit.edu	37	19	57985284	57985284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:57985284G>T	ENST00000343280.4	-	5	1088	c.828C>A	c.(826-828)agC>agA	p.S276R	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S164R|ZNF772_ENST00000356584.3_Missense_Mutation_p.S235R|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S276R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		AGTCTTTGCGGCTGAAGGTTT	0.488000													25	88					4.72057e-08	6.10748e-08	0.003954	1	0
IL5RA	3568	broad.mit.edu	37	3	3143466	3143466	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:3143466C>A	ENST00000446632.2	-	5	851	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	IL5RA_ENST00000456302.1_Missense_Mutation_p.G93C|IL5RA_ENST00000311981.8_Missense_Mutation_p.G93C|IL5RA_ENST00000383846.1_Missense_Mutation_p.G93C|IL5RA_ENST00000430514.2_Missense_Mutation_p.G93C|IL5RA_ENST00000418488.2_Missense_Mutation_p.G93C|IL5RA_ENST00000256452.3_Missense_Mutation_p.G93C|IL5RA_ENST00000445864.2_Missense_Mutation_p.G93C|IL5RA_ENST00000438560.1_Missense_Mutation_p.G93C	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	93					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.G93C(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GCTGAAAAGCCTTTGTGGAGG	0.453000													17	39					3.41278e-10	4.6938e-10	0.004990	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45711635	45711635	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:45711635G>C	ENST00000310806.4	-	4	1203	c.745C>G	c.(745-747)Caa>Gaa	p.Q249E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	249					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.Q249E(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAAAATTTGTTTAGCCAAC	0.358000													19	111					0	0	0.010504	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926344	106926344	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:106926344C>A	ENST00000434710.1	-	0	277																											TAAGAGAGACCCACTCCAGAC	0.527000													33	477					1.90571e-15	3.15428e-15	0.004289	1	0
TRIB3	57761	broad.mit.edu	37	20	376888	376888	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:376888G>A	ENST00000217233.3	+	4	1184	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	TRIB3_ENST00000422053.2_Missense_Mutation_p.G238R	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	211	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.G211R(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGTGCTGACTGGGCCAGATGA	0.607000													18	38					0	0	0.006122	0	0
BAHCC1	57597	broad.mit.edu	37	17	79425854	79425854	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:79425854G>T	ENST00000307745.7	+	24	5464	c.5464G>T	c.(5464-5466)Gtg>Ttg	p.V1822L															p.V1822L(1)									GGGCCGGGCCGTGAGCCGCCT	0.662000													16	22					6.49762e-13	9.83867e-13	0.006122	1	0
C5	727	broad.mit.edu	37	9	123731377	123731377	+	Silent	SNP	G	G	A	rs142157475		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:123731377G>A	ENST00000223642.1	-	33	4211	c.4182C>T	c.(4180-4182)taC>taT	p.Y1394Y		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1394					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.Y1394Y(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAGAGTTTCCGTAGCCTCTGT	0.413000													23	89					0	0	0.004656	0	0
INTS1	26173	broad.mit.edu	37	7	1520047	1520047	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:1520047C>A	ENST00000389470.4	-	31	4576	c.4577G>T	c.(4576-4578)aGc>aTc	p.S1526I	INTS1_ENST00000404767.3_Missense_Mutation_p.S1327I			Q8N201	INT1_HUMAN	integrator complex subunit 1	1327					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.S1526I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGCTCTGGGCTGCTCTTTGG	0.622000													4	24					0.00024832	0.000275911	0.009096	1	0
C1orf200	644997	broad.mit.edu	37	1	9714445	9714445	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:9714445G>A	ENST00000377320.3	-	1	199	c.50C>T	c.(49-51)cCg>cTg	p.P17L	PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron					chromosome 1 open reading frame 200									p.P17L(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GAGATCACACGGGGTGCCAGG	0.577000													18	58					0	0	0.006122	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745781	77745781	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:77745781G>T	ENST00000409088.3	-	3	1628	c.1214C>A	c.(1213-1215)tCc>tAc	p.S405Y	LRRTM4_ENST00000409911.1_Missense_Mutation_p.S406Y|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S406Y|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S405Y|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S405Y	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	405						integral to membrane		p.S405Y(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAACCCTGGGGAAGGGCTTGG	0.502000													28	66					4.22769e-11	6.07573e-11	0.006320	1	0
DOCK2	1794	broad.mit.edu	37	5	169435718	169435718	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:169435718G>C	ENST00000256935.8	+	32	3280	c.3200G>C	c.(3199-3201)gGc>gCc	p.G1067A	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.G128A|DOCK2_ENST00000520908.1_Missense_Mutation_p.G559A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1067	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.G1067A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGCTAATTGGCTTCTCCATC	0.493000													27	99					0	0	0.002096	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63920523	63920523	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:63920523G>C	ENST00000337537.3	-	3	840	c.238C>G	c.(238-240)Cta>Gta	p.L80V	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L4V|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L80V|PPP2R5E_ENST00000553266.1_Intron	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	80					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.L80V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGATCAGATAGCGTGTCCATG	0.408000													15	68					0	0	0.004007	0	0
OR5B12	390191	broad.mit.edu	37	11	58207550	58207550	+	Silent	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:58207550G>C	ENST00000302572.2	-	1	96	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25L(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGACTATGAAGAGTGGGATCT	0.468000													39	123					0	0	0.008740	0	0
OGDHL	55753	broad.mit.edu	37	10	50945852	50945852	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:50945852C>T	ENST00000374103.4	-	20	2655	c.2570G>A	c.(2569-2571)aGc>aAc	p.S857N	OGDHL_ENST00000419399.1_Missense_Mutation_p.S800N|OGDHL_ENST00000432695.1_Missense_Mutation_p.S648N|OGDHL_ENST00000490844.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	857					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.S857N(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGTCAAAGCTGGACTTGGC	0.592000													12	52					0	0	0.001855	0	0
NMUR1	10316	broad.mit.edu	37	2	232389863	232389863	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:232389863C>A	ENST00000305141.4	-	3	1305	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	391					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R391M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGTGGTCATCCTGCTGAGGCT	0.672000													10	35					0.00010058	0.000114675	0.001368	1	0
DHX34	9704	broad.mit.edu	37	19	47856580	47856580	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:47856580G>A	ENST00000328771.4	+	2	642	c.293G>A	c.(292-294)cGc>cAc	p.R98H		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	98						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.R98H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCTACCTCGCACTTACGAC	0.617000													18	102					0	0	0.006122	0	0
PTPRB	5787	broad.mit.edu	37	12	70980899	70980899	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:70980899T>A	ENST00000334414.6	-	9	2243	c.2199A>T	c.(2197-2199)aaA>aaT	p.K733N	PTPRB_ENST00000551525.1_Missense_Mutation_p.K732N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.K733N|PTPRB_ENST00000538708.1_Missense_Mutation_p.K515N|PTPRB_ENST00000451516.2_Missense_Mutation_p.K425N|PTPRB_ENST00000261266.5_Missense_Mutation_p.K515N|PTPRB_ENST00000550857.1_Missense_Mutation_p.K425N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	515	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K515N(2)|p.K733N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTGGCATCTTTGGAGAGTG	0.433000													10	100					0	0	0.006214	0	0
SLAMF1	6504	broad.mit.edu	37	1	160582310	160582310	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:160582310C>A	ENST00000302035.6	-	6	1274	c.925G>T	c.(925-927)Gct>Tct	p.A309S	SLAMF1_ENST00000235739.5_Missense_Mutation_p.A279S|SLAMF1_ENST00000538290.1_3'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	309					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.A309S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTGTGGCAGCAACATATATG	0.493000													14	36					2.31682e-05	2.70578e-05	0.003163	1	0
PTCHD4	442213	broad.mit.edu	37	6	47976771	47976771	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:47976771G>C	ENST00000543600.1	-	2	494	c.455C>G	c.(454-456)tCa>tGa	p.S152*	PTCHD4_ENST00000339488.4_Nonsense_Mutation_p.S169*			Q6ZW05	CF138_HUMAN	patched domain containing 4	169						integral to membrane	hedgehog receptor activity	p.S169*(1)									GGCTCTGGCTGACTTGACCCG	0.483000													5	38					0	0	0.000602	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376161	113376161	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:113376161G>T	ENST00000316407.4	-	7	4778	c.4368C>A	c.(4366-4368)aaC>aaA	p.N1456K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N1456K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1456	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.N1456K(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTAGAGATGGTTACTATGAA	0.507000													6	34					0.00198382	0.00214467	0.001984	1	0
LAMA2	3908	broad.mit.edu	37	6	129714294	129714294	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:129714294A>G	ENST00000421865.2	+	37	5388	c.5339A>G	c.(5338-5340)aAa>aGa	p.K1780R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1780	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.K1780R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGACTACAAAAACAAAGTT	0.428000													9	45					0	0	0.004482	0	0
ZNF845	91664	broad.mit.edu	37	19	53855173	53855173	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:53855173T>G	ENST00000458035.1	+	4	1362	c.1245T>G	c.(1243-1245)gaT>gaG	p.D415E	ZNF845_ENST00000595091.1_Missense_Mutation_p.D415E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D415E(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTGTAATGATTGTGGCAAGA	0.413000													3	138					0	0	0.004672	0	0
PTPRT	11122	broad.mit.edu	37	20	40739070	40739070	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:40739070G>T	ENST00000373198.3	-	24	3458	c.3223C>A	c.(3223-3225)Cac>Aac	p.H1075N	PTPRT_ENST00000373187.1_Missense_Mutation_p.H1053N|PTPRT_ENST00000373190.1_Missense_Mutation_p.H1052N|PTPRT_ENST00000373184.1_Missense_Mutation_p.H1063N|PTPRT_ENST00000356100.2_Missense_Mutation_p.H1062N|PTPRT_ENST00000373193.3_Missense_Mutation_p.H1056N|PTPRT_ENST00000373201.1_Missense_Mutation_p.H1043N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1053	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAACGCCGTGGTCAGGCCAG	0.617000													13	44					2.61681e-11	3.77198e-11	0.002450	1	0
HMCN1	83872	broad.mit.edu	37	1	186062758	186062758	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:186062758C>T	ENST00000271588.4	+	66	10382	c.10153C>T	c.(10153-10155)Ctc>Ttc	p.L3385F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L3385F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3385	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.L3385F(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTCTGCCTCTCTCCTCCCA	0.433000													20	136					0	0	0.002299	0	0
SP140	11262	broad.mit.edu	37	2	231090572	231090572	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:231090572G>T	ENST00000392045.3	+	1	127	c.13G>T	c.(13-15)Ggc>Tgc	p.G5C	SP140_ENST00000417495.3_Missense_Mutation_p.G5C|SP140_ENST00000486687.2_Missense_Mutation_p.G5C|SP140_ENST00000350136.5_5'UTR|SP140_ENST00000343805.6_Missense_Mutation_p.G5C|SP140_ENST00000373645.3_Missense_Mutation_p.G5C|SP140_ENST00000420434.3_Missense_Mutation_p.G5C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	5					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G5C(2)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGCCCAGCAGGGCCAGCAGGG	0.577000													8	44					5.4927e-09	7.36452e-09	0.004482	1	0
TPTE	7179	broad.mit.edu	37	21	10910351	10910351	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr21:10910351C>A	ENST00000298232.7	-	21	1718	c.1351G>T	c.(1351-1353)Ggt>Tgt	p.G451C	TPTE_ENST00000361285.4_Missense_Mutation_p.G469C|TPTE_ENST00000342420.5_Missense_Mutation_p.G431C|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	469	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G469C(1)|p.G469R(1)|p.G451R(1)|p.G451C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGGTAGACCGTCGAATACA	0.338000													20	93					2.75727e-19	4.77795e-19	0.004878	1	0
GPR139	124274	broad.mit.edu	37	16	20043415	20043415	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:20043415G>T	ENST00000570682.1	-	2	1004	c.704C>A	c.(703-705)tCc>tAc	p.S235Y		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	235						integral to membrane|plasma membrane		p.S235Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGCAAAGATGGAGGTAATGGT	0.527000													23	43					9.57634e-11	1.35995e-10	0.003330	1	0
OR56A4	120793	broad.mit.edu	37	11	6024014	6024014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:6024014G>T	ENST00000330728.4	-	1	410	c.365C>A	c.(364-366)tCc>tAc	p.S122Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S122*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCAGCAGGGAGAGGAGGCT	0.607000													20	88					8.34094e-07	1.02922e-06	0.008871	1	0
OR2A12	346525	broad.mit.edu	37	7	143792515	143792515	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:143792515G>A	ENST00000408949.2	+	1	375	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTATTTGGCGTTTGCTATTA	0.423000													29	109					0	0	0.006320	0	0
PHKB	5257	broad.mit.edu	37	16	47622833	47622833	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:47622833G>T	ENST00000455779.1	+	11	1052	c.867G>T	c.(865-867)ctG>ctT	p.L289L	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000323584.5_Silent_p.L296L|PHKB_ENST00000299167.8_Silent_p.L296L|PHKB_ENST00000566044.1_Silent_p.L289L			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	296					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.L296L(2)|p.L289L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATGCTGCCCTGCTCCCCTGCA	0.428000													21	73					1.64293e-13	2.56042e-13	0.003330	1	0
WDR1	9948	broad.mit.edu	37	4	10117832	10117832	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:10117832C>G	ENST00000382452.2	-	2	325	c.43G>C	c.(43-45)Gtg>Ctg	p.V15L	WDR1_ENST00000382451.2_Missense_Mutation_p.V15L|WDR1_ENST00000499869.2_Missense_Mutation_p.V15L|WDR1_ENST00000502702.1_Missense_Mutation_p.V15L	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	15					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	p.V15L(2)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCCTCTCCACCTGCGGGAGG	0.612000													9	21					0	0	0.000978	0	0
GRM3	2913	broad.mit.edu	37	7	86468553	86468553	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:86468553G>A	ENST00000361669.2	+	4	2822	c.1723G>A	c.(1723-1725)Gcc>Acc	p.A575T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.A167T|GRM3_ENST00000536043.1_Missense_Mutation_p.A447T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	575					synaptic transmission	integral to plasma membrane		p.A575T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTGGGAAGACGCCTGGGCCAT	0.493000													13	73					0	0	0.001855	0	0
NUP214	8021	broad.mit.edu	37	9	134077033	134077033	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:134077033G>T	ENST00000359428.5	+	30	5665		c.e30-1		NUP214_ENST00000451030.1_Splice_Site|NUP214_ENST00000483497.2_Splice_Site|NUP214_ENST00000411637.2_Splice_Site			P35658	NU214_HUMAN	nucleoporin 214kDa						carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.?(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTATTTTACAGGTTTTGGGTC	0.358000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								20	80					3.99206e-14	6.34499e-14	0.007413	1	0
CPA6	57094	broad.mit.edu	37	8	68658312	68658312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:68658312C>A	ENST00000297770.4	-	1	268	c.53G>T	c.(52-54)tGc>tTc	p.C18F	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.C18F	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	18					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.C18F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAAGAGCCAGCAAAGAGGCAG	0.517000													7	46					3.09899e-07	3.90423e-07	0.004482	1	0
SLC16A5	9121	broad.mit.edu	37	17	73096184	73096184	+	Silent	SNP	G	G	T	rs114487026	by1000genomes	TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:73096184G>T	ENST00000450736.2	+	4	841	c.426G>T	c.(424-426)gcG>gcT	p.A142A	SLC16A5_ENST00000580123.1_Silent_p.A142A|SLC16A5_ENST00000329783.4_Silent_p.A142A|SLC16A5_ENST00000538213.2_Silent_p.A182A			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	142					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.A142A(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCCAACGCGCTGGCCTCGA	0.652000													5	16					1.23904e-05	1.46128e-05	0.000602	1	0
MAG	4099	broad.mit.edu	37	19	35790540	35790540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:35790540G>T	ENST00000361922.4	+	5	649	c.499G>T	c.(499-501)Gag>Tag	p.E167*	MAG_ENST00000392213.3_Nonsense_Mutation_p.E167*|MAG_ENST00000537831.2_Nonsense_Mutation_p.E142*|MAG_ENST00000597035.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	167	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.E167*(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAACTGCCCAGAGCTGCGCCC	0.701000													3	11					0.004672	0.00498347	0.004672	1	0
WDR81	124997	broad.mit.edu	37	17	1631425	1631425	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:1631425G>T	ENST00000409644.1	+	1	3172	c.3172G>T	c.(3172-3174)Gcc>Tcc	p.A1058S	WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.A7S|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	387								p.A7S(1)|p.A1058S(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGAGCCTCCTGCCTCCTCGGG	0.672000													9	4					0.000274275	0.000303346	0.004482	1	0
SLC26A4	5172	broad.mit.edu	37	7	107314662	107314662	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:107314662C>T	ENST00000265715.3	+	5	693	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	157					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.P157S(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GAGCATGGCCCCCGACGAACA	0.418000									Pendred syndrome				27	121					0	0	0.007291	0	0
PATE1	160065	broad.mit.edu	37	11	125617679	125617679	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:125617679C>A	ENST00000305738.5	+	4	221	c.209C>A	c.(208-210)aCa>aAa	p.T70K	PATE1_ENST00000437148.2_Missense_Mutation_p.T58K	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	70						extracellular region		p.T70K(1)		large_intestine(1)|lung(5)	6						TGCACAGCAACAACAGAAGAG	0.493000													32	99					1.99505e-19	3.46966e-19	0.002445	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713463	142713463	+	RNA	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:142713463C>A	ENST00000369381.2	-	0	1142																											TGTACGGAAACGTCTTGTGTT	0.328000													15	74					1.05317e-09	1.43207e-09	0.002450	1	0
METTL2B	55798	broad.mit.edu	37	7	128141918	128141918	+	Missense_Mutation	SNP	G	G	T	rs149666702		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:128141918G>T	ENST00000480046.1	+	8	1005	c.890G>T	c.(889-891)cGg>cTg	p.R297L	METTL2B_ENST00000262432.8_Missense_Mutation_p.R362L			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	362							methyltransferase activity	p.R362L(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACAATGTACCGGGTTTGGATT	0.537000													14	208					7.93312e-07	9.81417e-07	0.002450	1	0
XIRP2	129446	broad.mit.edu	37	2	168104772	168104772	+	Silent	SNP	A	A	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:168104772A>C	ENST00000409195.1	+	9	6959	c.6870A>C	c.(6868-6870)ccA>ccC	p.P2290P	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2290P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2068P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2115					actin cytoskeleton organization	cell junction	actin binding	p.P2290P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCCCCCTTCCACCTCCATCTC	0.418000													24	56					0	0	0.002780	0	0
LILRA1	11024	broad.mit.edu	37	19	55107721	55107721	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:55107721G>T	ENST00000251372.3	+	7	1208	c.1026G>T	c.(1024-1026)gtG>gtT	p.V342V	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	342	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.V342V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGAGAACGTGACCCTGCTGT	0.602000													22	67					1.50039e-11	2.18902e-11	0.001882	1	0
ZNF826P	664701	broad.mit.edu	37	19	20591773	20591773	+	RNA	SNP	T	T	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:20591773T>G	ENST00000502675.1	-	0	222					NR_036455.1															large_intestine(4)	4						AATCATCTCATGTCTCTTCAC	0.423000													8	22					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179418668	179418668	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:179418668C>T	ENST00000589042.1	-	333	89394	c.89170G>A	c.(89170-89172)Gaa>Aaa	p.E29724K	TTN_ENST00000342175.6_Missense_Mutation_p.E20851K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20659K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28083K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20784K|TTN_ENST00000342992.6_Missense_Mutation_p.E27156K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28083	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E27156K(1)|p.E20851K(1)|p.E20659K(1)|p.E20784K(1)|p.E27154K(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)			TTGTAGAATTCAGATGGTTCA	0.413000													17	63					0	0	0.004007	0	0
PSMA8	143471	broad.mit.edu	37	18	23713962	23713962	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:23713962C>A	ENST00000308268.6	+	1	122	c.33C>A	c.(31-33)gtC>gtA	p.V11V	PSMA8_ENST00000415576.2_Silent_p.V11V|PSMA8_ENST00000343848.6_Silent_p.V11V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.V11V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CGATCACTGTCTTCTCCCCAG	0.577000													32	118					3.76114e-14	6.03794e-14	0.004289	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350571	50350571	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:50350571G>A	ENST00000376020.2	-	6	3596	c.3571C>T	c.(3571-3573)Ctg>Ttg	p.L1191L	SHROOM4_ENST00000460112.3_Silent_p.L1075L|SHROOM4_ENST00000289292.7_Silent_p.L1191L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1191					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.L1191L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCCCTCCAGGTGGCCAAAG	0.542000													12	15					0	0	0.001855	0	0
LRFN2	57497	broad.mit.edu	37	6	40400625	40400625	+	Silent	SNP	C	C	A	rs139791683		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:40400625C>A	ENST00000338305.6	-	2	770	c.228G>T	c.(226-228)acG>acT	p.T76T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	76						cell junction|integral to membrane|postsynaptic membrane		p.G77W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACCAGCCCCGTCATGTTGG	0.592000													14	42					0.000219431	0.000246091	0.002450	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802212	185802212	+	Missense_Mutation	SNP	A	A	T	rs138088364		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:185802212A>T	ENST00000302277.6	+	4	2683	c.2089A>T	c.(2089-2091)Aca>Tca	p.T697S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	697						intracellular	zinc ion binding	p.T697S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAAGAACACAATACTTTT	0.294000													19	83					0	0	0.010504	0	0
PPWD1	23398	broad.mit.edu	37	5	64883126	64883126	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:64883126G>C	ENST00000261308.5	+	11	1916	c.1844G>C	c.(1843-1845)gGa>gCa	p.G615A	PPWD1_ENST00000538977.1_Missense_Mutation_p.G459A|PPWD1_ENST00000535264.1_Missense_Mutation_p.G585A	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	615	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.G615A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GTGACTAAAGGAATGGAAGTT	0.368000													20	54					0	0	0.008871	0	0
C1orf177	163747	broad.mit.edu	37	1	55273638	55273638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:55273638G>A	ENST00000358193.3	+	4	488	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	C1orf177_ENST00000371273.3_Missense_Mutation_p.R145Q	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	145								p.R145Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TGTAGCACCCGGGGGCTGCTC	0.567000													28	67					0	0	0.004656	0	0
LPL	4023	broad.mit.edu	37	8	19805737	19805737	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:19805737C>A	ENST00000311322.8	+	2	605	c.135C>A	c.(133-135)acC>acA	p.T45T	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	45					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	p.T45T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CCCTAAGGACCCCTGAAGACA	0.443000													18	93					3.32936e-07	4.17257e-07	0.006122	1	0
SEMA6C	10500	broad.mit.edu	37	1	151108132	151108132	+	Silent	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:151108132T>C	ENST00000341697.3	-	14	3059	c.1368A>G	c.(1366-1368)ccA>ccG	p.P456P				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	456	Sema.					integral to membrane	receptor activity	p.P456P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCGCCCACCTGGGGTCAGCA	0.602000													18	133					0	0	0.001882	0	0
TRIM58	25893	broad.mit.edu	37	1	248039439	248039439	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:248039439A>G	ENST00000366481.3	+	6	1157	c.1109A>G	c.(1108-1110)aAg>aGg	p.K370R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	370	B30.2/SPRY.					intracellular	zinc ion binding	p.K370R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCCAAGAAAGGGGGAAACC	0.562000													33	96					0	0	0.003271	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284187	86284187	+	Silent	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr9:86284187G>A	ENST00000376395.4	-	7	1684	c.1161C>T	c.(1159-1161)aaC>aaT	p.N387N	UBQLN1_ENST00000257468.7_Silent_p.N387N	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	387					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.N387N(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCAGTTGTGGGTTTTCAGTTA	0.388000													7	31					0	0	0.001984	0	0
EPHB6	2051	broad.mit.edu	37	7	142562205	142562205	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:142562205C>T	ENST00000392957.2	+	7	1434	c.647C>T	c.(646-648)aCg>aTg	p.T216M	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.T216M	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	216						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.T201M(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGGACACGGGGGCCTGC	0.657000													48	172					0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761691	130761691	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:130761691C>A	ENST00000392429.1	+	2	2502	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	TMEM200A_ENST00000296978.3_Missense_Mutation_p.R42S|TMEM200A_ENST00000545622.1_Missense_Mutation_p.R42S	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	42						integral to membrane		p.R42S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCCCATCAGGCGCCGGCCCCG	0.527000													12	154					9.05144e-12	1.33273e-11	0.001855	1	0
GJD4	219770	broad.mit.edu	37	10	35894512	35894512	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:35894512T>C	ENST00000321660.1	+	1	175	c.17T>C	c.(16-18)tTg>tCg	p.L6S		NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	6					cell communication	connexon complex|integral to membrane		p.L6S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCGTGGACTTGCTAGGGTTT	0.507000													10	80					0	0	0.000978	0	0
WNK3	65267	broad.mit.edu	37	X	54359977	54359977	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chrX:54359977T>C	ENST00000354646.2	-	2	568	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	WNK3_ENST00000375169.3_Missense_Mutation_p.S44G|WNK3_ENST00000375159.2_Missense_Mutation_p.S44G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	44					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.S44G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAGAAGGTACTGTTTTTCTCC	0.423000													35	56					0	0	0.005524	0	0
GLP2R	9340	broad.mit.edu	37	17	9737166	9737166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:9737166C>A	ENST00000262441.5	+	2	745	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	78					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.Q78K(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAAGTGGGCTCAGTACAAACA	0.478000													12	33					9.31168e-06	1.11184e-05	0.001855	1	0
C11orf58	10944	broad.mit.edu	37	11	16760379	16760379	+	Silent	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr11:16760379A>T	ENST00000228136.4	+	1	432	c.54A>T	c.(52-54)ccA>ccT	p.P18P	C11orf58_ENST00000527893.1_Intron|C11orf58_ENST00000525684.1_Silent_p.P18P|C11orf58_ENST00000422258.2_5'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	18								p.P18P(1)		NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						CAGCCTCCCCAGACGACGATG	0.597000													13	42					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57325950	57325950	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:57325950C>A	ENST00000326441.9	-	10	4223	c.3860G>T	c.(3859-3861)tGt>tTt	p.C1287F	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.C1287F|PEG3_ENST00000598410.1_Missense_Mutation_p.C1163F|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.C1161F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1287					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C1287F(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATTCTCCACAGACTGCACA	0.478000													17	43					7.07596e-05	8.16457e-05	0.006122	1	0
SMYD2	56950	broad.mit.edu	37	1	214478535	214478535	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:214478535A>G	ENST00000366957.5	+	2	201	c.179A>G	c.(178-180)gAa>gGa	p.E60G	SMYD2_ENST00000415093.2_Missense_Mutation_p.E60G|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	60					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	p.E60G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTAAGGAAAGAAGGATTGTCC	0.458000													40	186					0	0	0.002522	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204691	43204691	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr18:43204691A>T	ENST00000255226.6	+	2	878	c.62A>T	c.(61-63)tAc>tTc	p.Y21F	SLC14A2_ENST00000586448.1_Missense_Mutation_p.Y21F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	21						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.Y21F(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAAACTCTACGAGGCAGAG	0.557000													18	93					0	0	0.001882	0	0
PKHD1	5314	broad.mit.edu	37	6	51619626	51619626	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:51619626C>T	ENST00000371117.3	-	56	9028	c.8753G>A	c.(8752-8754)gGc>gAc	p.G2918D	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2918D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2918					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G2918D(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACATGGTGGCCCTTGACTTC	0.473000													15	82					0	0	0.002450	0	0
HUNK	30811	broad.mit.edu	37	21	33346920	33346920	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr21:33346920T>A	ENST00000270112.2	+	7	1424	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	355					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	p.L355Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						ACCGAGAAGCTGGGTTACAAG	0.552000													38	55					0	0	0.004289	0	0
SPTA1	6708	broad.mit.edu	37	1	158604367	158604367	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:158604367C>A	ENST00000368148.3	-	39	5711	c.5531G>T	c.(5530-5532)cGa>cTa	p.R1844L	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R1844L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1844					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.R1844L(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)					ACAATCTCCTCGGACAGCCAA	0.403000													31	134					4.31634e-10	5.91955e-10	0.002445	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084304	89084304	+	RNA	SNP	G	G	C			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:89084304G>C	ENST00000393525.3	+	0	672																											ACAACAATCTGGGAGACATAA	0.378000													7	24					0	0	0.003080	0	0
HCN4	10021	broad.mit.edu	37	15	73615894	73615894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:73615894G>T	ENST00000261917.3	-	8	3533	c.2540C>A	c.(2539-2541)tCc>tAc	p.S847Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	847					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.S847Y(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCCACCTGGGACGGGCTGCT	0.667000													16	74					3.99206e-14	6.34499e-14	0.007413	1	0
HECW1	23072	broad.mit.edu	37	7	43483856	43483856	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:43483856C>A	ENST00000395891.1	+	11	1690	c.1085C>A	c.(1084-1086)gCc>gAc	p.A362D	HECW1_ENST00000453890.1_Missense_Mutation_p.A362D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	362					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.A362D(1)|p.A341D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGAGTCAGCCCAAATTCAG	0.512000													11	40					6.42651e-13	9.76179e-13	0.000978	1	0
ANKRD17	26057	broad.mit.edu	37	4	73956470	73956470	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:73956470G>A	ENST00000358602.4	-	29	6991	c.6875C>T	c.(6874-6876)cCa>cTa	p.P2292L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P2179L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P2041L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2292					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.P2292L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCTGAATTTGGCAAATATGA	0.428000													37	121					0	0	0.004289	0	0
KANK4	163782	broad.mit.edu	37	1	62713182	62713182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:62713182G>T	ENST00000371153.4	-	9	3223	c.2845C>A	c.(2845-2847)Ctg>Atg	p.L949M	KANK4_ENST00000371150.1_Missense_Mutation_p.L305M|KANK4_ENST00000317477.4_Missense_Mutation_p.L87M|KANK4_ENST00000354381.3_Missense_Mutation_p.L321M	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	949								p.L949M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGGTGTGCCAGGAGCAGCCGC	0.587000													8	54					2.32078e-09	3.12915e-09	0.003163	1	0
GRM6	2916	broad.mit.edu	37	5	178417662	178417662	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:178417662G>T	ENST00000231188.5	-	4	1121	c.943C>A	c.(943-945)Ccc>Acc	p.P315T	GRM6_ENST00000517717.1_Missense_Mutation_p.P315T	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	315					detection of visible light|visual perception	integral to plasma membrane		p.P315T(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CTCAAGATGGGTGAGGTCTTG	0.672000													3	15					0.004672	0.00498347	0.004672	1	0
CFHR5	81494	broad.mit.edu	37	1	196971786	196971786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:196971786G>T	ENST00000367414.5	+	8	1450	c.1394G>T	c.(1393-1395)cGc>cTc	p.R465L	CFHR5_ENST00000256785.4_Missense_Mutation_p.R441L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 8.				complement activation, alternative pathway	extracellular region		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328000													11	43					2.27111e-07	2.87634e-07	0.001368	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013164	73013164	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr4:73013164G>T	ENST00000308744.6	+	4	1302	c.1204G>T	c.(1204-1206)Gct>Tct	p.A402S	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.A300S|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.A303S	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	402					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.A402S(1)|p.A402T(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCAGACTACGCTGACCTTTC	0.463000													25	90					1.1804e-14	1.90771e-14	0.003954	1	0
ENTPD7	57089	broad.mit.edu	37	10	101464343	101464343	+	Missense_Mutation	SNP	G	G	A	rs61738520		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:101464343G>A	ENST00000370489.4	+	13	1896	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	573						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.R573H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTGCGGCTACGCCGAATTCAC	0.547000													12	58					0	0	0.000978	0	0
FAM20B	9917	broad.mit.edu	37	1	179013302	179013302	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:179013302A>G	ENST00000263733.4	+	2	656	c.320A>G	c.(319-321)cAg>cGg	p.Q107R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	107						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	p.Q107R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AAAGGGACACAGCTGAAAGCC	0.463000													3	82					0	0	0.004672	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865914	47865914	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:47865914C>A	ENST00000396105.1	-	14	3893	c.3647G>T	c.(3646-3648)cGc>cTc	p.R1216L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1216L|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1216							metal ion binding	p.R1216L(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CACACAGATGCGGTTGGATAT	0.517000													69	112					8.47719e-14	1.33412e-13	0.003610	1	0
PLCE1	51196	broad.mit.edu	37	10	95931002	95931002	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:95931002A>T	ENST00000260766.3	+	4	2192	c.1558A>T	c.(1558-1560)Aag>Tag	p.K520*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.K212*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.K212*|PLCE1_ENST00000371380.2_Nonsense_Mutation_p.K520*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	520					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.K212*(1)|p.K520*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGATCAGCAAGGAGCTGAT	0.532000													21	122					0	0	0.008871	0	0
RFPL1	5988	broad.mit.edu	37	22	29837555	29837555	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr22:29837555C>G	ENST00000354373.2	+	2	607	c.398C>G	c.(397-399)aCa>aGa	p.T133R	RFPL1S_ENST00000461286.2_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	133	B30.2/SPRY.						zinc ion binding	p.T133R(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GATGCCGACACAGCCAACAAC	0.502000													10	77					0	0	0.008291	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543136	182543136	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:182543136C>A	ENST00000295108.3	-	2	909	c.452G>T	c.(451-453)tGg>tTg	p.W151L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	151	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.W151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGACAGAGCCCAGATGTAGTT	0.557000													20	79					1.2644e-06	1.55619e-06	0.010504	1	0
OR9K2	441639	broad.mit.edu	37	12	55523769	55523769	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:55523769A>T	ENST00000305377.5	+	1	305	c.217A>T	c.(217-219)Att>Ttt	p.I73F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I73F(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GATGATGACCATTATTATGAC	0.428000													6	281					0	0	0.001168	0	0
OIT3	170392	broad.mit.edu	37	10	74660154	74660154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:74660154C>A	ENST00000334011.5	+	3	674	c.456C>A	c.(454-456)gaC>gaA	p.D152E		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	152						nuclear envelope	calcium ion binding	p.D152E(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					ACATCTGCGACGAGGACTGCC	0.488000													5	26					3.59834e-05	4.18209e-05	0.001168	1	0
GRIK2	2898	broad.mit.edu	37	6	101847268	101847268	+	Splice_Site	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:101847268G>T	ENST00000369138.1	+	1	605	c.115_splice	c.e1+1	p.G39_splice	GRIK2_ENST00000413795.1_Splice_Site_p.G39_splice|GRIK2_ENST00000358361.3_Splice_Site_p.G39_splice|GRIK2_ENST00000369137.3_Splice_Site_p.G39_splice|GRIK2_ENST00000318991.6_Splice_Site_p.G39_splice|GRIK2_ENST00000421544.1_Splice_Site_p.G39_splice	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	39					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.G39C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	ATTAAGATTTGGTAAGATTCC	0.512000													13	51					0.000151284	0.000171265	0.001855	1	0
MIA3	375056	broad.mit.edu	37	1	222800922	222800922	+	Silent	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:222800922G>T	ENST00000344922.5	+	4	385	c.360G>T	c.(358-360)acG>acT	p.T120T	MIA3_ENST00000344441.6_Silent_p.T120T|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Silent_p.T120T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	120					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.T120T(2)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TACAGGAGACGGATTTTGTTT	0.343000													32	237					3.90053e-15	6.38994e-15	0.002445	1	0
NUP62	23636	broad.mit.edu	37	19	50412101	50412101	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr19:50412101C>T	ENST00000596217.1	-	2	2851	c.964G>A	c.(964-966)Gcg>Acg	p.A322T	NUP62_ENST00000422090.2_Missense_Mutation_p.A322T|NUP62_ENST00000597029.1_Missense_Mutation_p.A322T|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A322T|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.A322T|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	322	Ala-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.A322T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGGCAGCCGCCCCTGCAGCT	0.642000													5	54					0	0	0.001168	0	0
SEMG1	6406	broad.mit.edu	37	20	43836956	43836956	+	Missense_Mutation	SNP	A	A	G	rs56342547		TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:43836956A>G	ENST00000372781.3	+	2	1075	c.1018A>G	c.(1018-1020)Agc>Ggc	p.S340G	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1			semenogelin I									p.S340G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCAAGAGCATAGCCAAAAGGC	0.403000													5	41					0	0	0.000602	0	0
CUBN	8029	broad.mit.edu	37	10	16975228	16975228	+	Silent	SNP	C	C	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr10:16975228C>A	ENST00000377833.4	-	40	6047	c.5982G>T	c.(5980-5982)ccG>ccT	p.P1994P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1994	CUB 14.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1995C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGGCCAGCCCGGGGAGAAGA	0.507000													16	50					1.99824e-07	2.53744e-07	0.004990	1	0
ACSM5	54988	broad.mit.edu	37	16	20448612	20448612	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:20448612G>T	ENST00000331849.4	+	12	1606	c.1459G>T	c.(1459-1461)Gtg>Ttg	p.V487L		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	487					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.V487L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCTGTTGAAGTGGAAAGTGC	0.552000													15	64					6.72482e-11	9.57838e-11	0.003163	1	0
MYO7B	4648	broad.mit.edu	37	2	128324349	128324349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr2:128324349C>G	ENST00000389524.4	+	5	470	c.417C>G	c.(415-417)aaC>aaG	p.N139K	MYO7B_ENST00000409816.2_Missense_Mutation_p.N139K|MYO7B_ENST00000428314.1_Missense_Mutation_p.N139K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	139	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	p.N139K(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATCGCCAACAACTGCTACT	0.592000													10	23					0	0	0.008291	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542439	142542439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr3:142542439G>T	ENST00000295992.3	-	7	1190	c.884C>A	c.(883-885)gCc>gAc	p.A295D	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	295						extracellular region	collagen binding|heparin binding|peptidase activator activity	p.A295D(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTGACACAAGGCCACGGTGGG	0.368000													16	122					3.41278e-10	4.6938e-10	0.004990	1	0
SYT6	148281	broad.mit.edu	37	1	114680279	114680279	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:114680279delG	ENST00000393296.1	-	3	986	c.909delC	c.(907-909)ccfs	p.P303fs	SYT6_ENST00000369547.1_Frame_Shift_Del_p.P218fs			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	303	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCCTCATAGGGCACAGGGA	0.567													22	65	---	---	---	---					
MYBPH	4608	broad.mit.edu	37	1	203138465	203138465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:203138465delG	ENST00000255416.4	-	8	1203	c.1146delC	c.(1144-1146)ccfs	p.P382fs		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	382	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGTGAATGAGGGGGCTTCTG	0.577													7	35	---	---	---	---					
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)del	p.Q775del		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	775						integral to membrane|lysosomal membrane	nucleotide binding	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626													8	192	---	---	---	---					
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr2:219252307delT	ENST00000233202.6	+	7	931	c.591delT	c.(589-591)gcfs	p.A197fs	SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	197					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													7	714	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487952	24487952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:24487952delG	ENST00000264463.4	-	12	2694	c.2187delC	c.(2185-2187)ccfs	p.P729fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	729					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGAGTCGTAGGGGGGTGCGG	0.463										HNSCC(23;0.051)			26	151	---	---	---	---					
PTGER4	5734	broad.mit.edu	37	5	40692466	40692467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr5:40692466_40692467insA	ENST00000302472.3	+	3	2477_2478	c.1453_1454insA	c.(1453-1455)aaafs	p.K485fs		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	485					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAACTTATCAGAAAAATGTATA	0.465													18	78	---	---	---	---					
KLHL31	401265	broad.mit.edu	37	6	53519990	53519991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:53519990_53519991insA	ENST00000370905.3	-	2	220_221	c.80_81insT	c.(79-81)caafs	p.Q27fs	KLHL31_ENST00000407079.1_Frame_Shift_Ins_p.Q27fs	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCAGTTTGTTTAGGGGGCTATC	0.421													8	46	---	---	---	---					
WISP3	8838	broad.mit.edu	37	6	112382465	112382466	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr6:112382465_112382466insT	ENST00000361714.1	+	2	419_420	c.374_375insT	c.(373-375)cagfs	p.Q125fs	WISP3_ENST00000230529.5_Frame_Shift_Ins_p.Q107fs|WISP3_ENST00000368663.3_Frame_Shift_Ins_p.Q85fs|WISP3_ENST00000604763.1_Frame_Shift_Ins_p.Q107fs|WISP3_ENST00000368666.2_Frame_Shift_Ins_p.Q107fs			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	107					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTAGACAGGCCTAGGTACGAGA	0.450													13	106	---	---	---	---					
ZNF273	10793	broad.mit.edu	37	7	64378058	64378074	+	Frame_Shift_Del	DEL	GATAACTACAGAAACCT	GATAACTACAGAAACCT	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:64378058_64378074delGATAACTACAGAAACCT	ENST00000476120.1	+	2	273_289	c.202_218delGATAACTACAGAAACCT	c.(202-219)gfs	p.DNYRNL68fs	ZNF273_ENST00000319636.5_Frame_Shift_Del_p.DNYRNL3fs|ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000545510.1_Frame_Shift_Del_p.DNYRNL35fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGATGTTAGATAACTACAGAAACCTGGTCTTCCTG	0.378													11	184	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764824	92764824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr7:92764824delC	ENST00000318238.4	-	5	1677	c.461delG	c.(460-462)gtfs	p.G154fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.G154fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.G154fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	154										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTAGCTTACCCTTTTTCTT	0.348													23	124	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113326812	113326813	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr8:113326812_113326813delAG	ENST00000297405.5	-	48	7638_7639	c.7394_7395delCT	c.(7393-7395)tfs	p.S2465fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.S2395fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.S2361fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.S2425fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2465	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGACTCCAGTAGAATCTAGCCG	0.386										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	61	---	---	---	---					
NFIB	4781	broad.mit.edu	37	9	14307010	14307011	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr9:14307010_14307011insA	ENST00000380959.3	-	2	1012_1013	c.539_540insT	c.(538-540)tgcfs	p.C180fs	NFIB_ENST00000380934.4_Frame_Shift_Ins_p.C206fs|NFIB_ENST00000397579.2_Frame_Shift_Ins_p.C180fs|NFIB_ENST00000380953.1_Frame_Shift_Ins_p.C180fs|NFIB_ENST00000380921.3_Frame_Shift_Ins_p.C180fs|NFIB_ENST00000397575.3_Frame_Shift_Ins_p.C180fs|NFIB_ENST00000397581.2_Frame_Shift_Ins_p.C180fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	180					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CGTAGTATGCCAAAAACAAATC	0.465			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								36	122	---	---	---	---					
ZNF195	7748	broad.mit.edu	37	11	3381670	3381670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr11:3381670delC	ENST00000354599.6	-	4	456	c.352delG	c.(352-354)aafs	p.E118fs	ZNF195_ENST00000005082.9_Frame_Shift_Del_p.E167fs|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Frame_Shift_Del_p.E122fs|ZNF195_ENST00000526601.1_Frame_Shift_Del_p.E171fs|ZNF195_ENST00000343338.7_Frame_Shift_Del_p.E122fs|ZNF195_ENST00000399602.4_Frame_Shift_Del_p.E190fs	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	190	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTAAACTTTCCCAGTCTTTC	0.333													17	88	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57894234	57894235	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:57894234_57894235delTG	ENST00000262027.5	+	10	1356_1357	c.1222_1223delTG	c.(1222-1224)tfs	p.C408fs	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Frame_Shift_Del_p.C174fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	408					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTGTCCCTTCTGTGGCTATGAG	0.569													15	100	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111350930	111350930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr12:111350930delG	ENST00000228841.8	-	6	419	c.372delC	c.(370-372)acfs	p.T125fs	MYL2_ENST00000548438.1_Frame_Shift_Del_p.T111fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	125	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CCGCCTGCGTGGTCAGCATTT	0.597													14	119	---	---	---	---					
FOXG1	2290	broad.mit.edu	37	14	29237772	29237772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:29237772delG	ENST00000382535.3	+	2	1656	c.1287delG	c.(1285-1287)cafs	p.Q429fs	FOXG1_ENST00000313071.4_Frame_Shift_Del_p.Q429fs			P55316	FOXG1_HUMAN	forkhead box G1	429					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGACTTCGCAGAGCAGCACGT	0.637													22	48	---	---	---	---					
IGHV3-53	28420	broad.mit.edu	37	14	107048915	107048915	+	RNA	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:107048915delC	ENST00000390627.2	-	0	325																											gtctcagggaccccccaggct	0.587													14	103	---	---	---	---					
IGHV3-66	28412	broad.mit.edu	37	14	107131276	107131276	+	RNA	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr14:107131276delC	ENST00000390632.2	-	0	183																											gtctcagggaccccccaggct	0.587													10	49	---	---	---	---					
MEX3B	84206	broad.mit.edu	37	15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr15:82337987_82337989delGCC	ENST00000558133.1	-	1	471_473	c.58_60delGGC	c.(58-60)del	p.G20del	MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754													2	4	---	---	---	---					
DHX38	9785	broad.mit.edu	37	16	72135088	72135089	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:72135088_72135089delAG	ENST00000268482.3	+	10	1891_1892	c.1382_1383delAG	c.(1381-1383)afs	p.K462fs	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	462					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AAGGAGCGCAAGAAGGTTGGTT	0.475													8	73	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053820	90053820	+	RNA	DEL	A	A	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr16:90053820delA	ENST00000437774.1	+	0	731					NR_003226.1																						gaggaggtggaggaggtggag	0.632													2	4	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71426691	71426691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr17:71426691delG	ENST00000392650.3	-	12	1542	c.1542delC	c.(1540-1542)tcfs	p.S514fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.S514fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	514	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGCACACCATGGAGGCCTGGG	0.602													9	24	---	---	---	---					
MYL9	10398	broad.mit.edu	37	20	35176463	35176463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	6a20de47-dc03-414c-a3d3-2a48b156da06	g.chr20:35176463delG	ENST00000279022.2	+	3	317	c.213delG	c.(211-213)gafs	p.E71fs	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	71					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATACCTGGAGGGCATGATGA	0.622													10	33	---	---	---	---					
MYBPH	4608	broad.mit.edu	37	1	203138465	203138465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr1:203138465delG	ENST00000255416.4	-	8	1203	c.1146delC	c.(1144-1146)ccfs	p.P382fs		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	382	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGGTGAATGAGGGGGCTTCTG	0.577													7	35	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487952	24487952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:24487952delG	ENST00000264463.4	-	12	2694	c.2187delC	c.(2185-2187)ccfs	p.P729fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	729					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGAGTCGTAGGGGGGTGCGG	0.463										HNSCC(23;0.051)			26	151	---	---	---	---					
PTGER4	5734	broad.mit.edu	37	5	40692466	40692467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr5:40692466_40692467insA	ENST00000302472.3	+	3	2477_2478	c.1453_1454insA	c.(1453-1455)aaafs	p.K485fs		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	485					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GAACTTATCAGAAAAATGTATA	0.465													18	78	---	---	---	---					
KLHL31	401265	broad.mit.edu	37	6	53519990	53519991	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:53519990_53519991insA	ENST00000370905.3	-	2	220_221	c.80_81insT	c.(79-81)caafs	p.Q27fs	KLHL31_ENST00000407079.1_Frame_Shift_Ins_p.Q27fs	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TCAGTTTGTTTAGGGGGCTATC	0.421													8	46	---	---	---	---					
WISP3	8838	broad.mit.edu	37	6	112382465	112382466	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr6:112382465_112382466insT	ENST00000361714.1	+	2	419_420	c.374_375insT	c.(373-375)cagfs	p.Q125fs	WISP3_ENST00000368666.2_Frame_Shift_Ins_p.Q107fs|WISP3_ENST00000230529.5_Frame_Shift_Ins_p.Q107fs|WISP3_ENST00000368663.3_Frame_Shift_Ins_p.Q85fs|WISP3_ENST00000604763.1_Frame_Shift_Ins_p.Q107fs			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	107					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTAGACAGGCCTAGGTACGAGA	0.450													13	106	---	---	---	---					
ZNF273	10793	broad.mit.edu	37	7	64378058	64378074	+	Frame_Shift_Del	DEL	GATAACTACAGAAACCT	GATAACTACAGAAACCT	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:64378058_64378074delGATAACTACAGAAACCT	ENST00000476120.1	+	2	273_289	c.202_218delGATAACTACAGAAACCT	c.(202-219)gfs	p.DNYRNL68fs	ZNF273_ENST00000545510.1_Frame_Shift_Del_p.DNYRNL35fs|ZNF273_ENST00000319636.5_Frame_Shift_Del_p.DNYRNL3fs|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGATGTTAGATAACTACAGAAACCTGGTCTTCCTG	0.378													11	184	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92764824	92764824	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr7:92764824delC	ENST00000318238.4	-	5	1677	c.461delG	c.(460-462)gtfs	p.G154fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.G154fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.G154fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	154										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTAGCTTACCCTTTTTCTT	0.348													23	124	---	---	---	---					
CSMD3	114788	broad.mit.edu	37	8	113326812	113326813	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr8:113326812_113326813delAG	ENST00000297405.5	-	48	7638_7639	c.7394_7395delCT	c.(7393-7395)tfs	p.S2465fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.S2395fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.S2425fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.S2361fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2465	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGACTCCAGTAGAATCTAGCCG	0.386										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	61	---	---	---	---					
MARS	4141	broad.mit.edu	37	12	57894234	57894235	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:57894234_57894235delTG	ENST00000262027.5	+	10	1356_1357	c.1222_1223delTG	c.(1222-1224)tfs	p.C408fs	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Frame_Shift_Del_p.C174fs	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	408					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTGTCCCTTCTGTGGCTATGAG	0.569													15	100	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111350930	111350930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr12:111350930delG	ENST00000228841.8	-	6	419	c.372delC	c.(370-372)acfs	p.T125fs	MYL2_ENST00000548438.1_Frame_Shift_Del_p.T111fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	125	EF-hand 2.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CCGCCTGCGTGGTCAGCATTT	0.597													14	119	---	---	---	---					
FOXG1	2290	broad.mit.edu	37	14	29237772	29237772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:29237772delG	ENST00000382535.3	+	2	1656	c.1287delG	c.(1285-1287)cafs	p.Q429fs	FOXG1_ENST00000313071.4_Frame_Shift_Del_p.Q429fs			P55316	FOXG1_HUMAN	forkhead box G1	429					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGACTTCGCAGAGCAGCACGT	0.637													22	48	---	---	---	---					
IGHV3-53	28420	broad.mit.edu	37	14	107048915	107048915	+	RNA	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:107048915delC	ENST00000390627.2	-	0	325																											gtctcagggaccccccaggct	0.587													14	103	---	---	---	---					
IGHV3-66	28412	broad.mit.edu	37	14	107131276	107131276	+	RNA	DEL	C	C	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr14:107131276delC	ENST00000390632.2	-	0	183																											gtctcagggaccccccaggct	0.587													10	49	---	---	---	---					
MEX3B	84206	broad.mit.edu	37	15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr15:82337987_82337989delGCC	ENST00000558133.1	-	1	471_473	c.58_60delGGC	c.(58-60)del	p.G20del	MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754													2	4	---	---	---	---					
DHX38	9785	broad.mit.edu	37	16	72135088	72135089	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr16:72135088_72135089delAG	ENST00000268482.3	+	10	1891_1892	c.1382_1383delAG	c.(1381-1383)afs	p.K462fs	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	462					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AAGGAGCGCAAGAAGGTTGGTT	0.475													8	73	---	---	---	---					
SDK2	54549	broad.mit.edu	37	17	71426691	71426691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr17:71426691delG	ENST00000392650.3	-	12	1542	c.1542delC	c.(1540-1542)tcfs	p.S514fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.S514fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	514	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGCACACCATGGAGGCCTGGG	0.602													9	24	---	---	---	---					
MYL9	10398	broad.mit.edu	37	20	35176463	35176463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6778-01A-11D-1855-08	TCGA-44-6778-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	903182ad-3145-4fa3-869e-62774aedf86c	03929abc-86b8-4336-90e3-bdcdc16e8bee	g.chr20:35176463delG	ENST00000279022.2	+	3	317	c.213delG	c.(211-213)gafs	p.E71fs	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Intron	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	71					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATACCTGGAGGGCATGATGA	0.622													10	33	---	---	---	---