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
COPS8	10920	broad.mit.edu	37	2	238005469	238005469	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:238005469A>T	ENST00000354371.2	+	7	1160	c.507A>T	c.(505-507)gcA>gcT	p.A169A	COPS8_ENST00000409334.1_Silent_p.A133A|COPS8_ENST00000392008.2_Silent_p.A120A|COPS8_ENST00000409629.1_Silent_p.A166A	NM_006710.4	NP_006701.1	Q99627	CSN8_HUMAN	COP9 signalosome subunit 8	169					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		ATTTAGTTGCAGGGGCCCTGG	0.313000													15	51					0	0	0.146539	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999004	27999004	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:27999004G>T	ENST00000441525.1	-	1	562	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	150										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATCGGGGCAGGGCAGATGTC	0.567000													8	26					0.000442599	0.000525107	0.058154	1	0
NOC3L	64318	broad.mit.edu	37	10	96122587	96122587	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:96122587C>A	ENST00000371361.3	-	1	109	c.9_splice	c.e1+1	p.A3_splice	NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	3						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GGACACTTACCGCCTTCATCC	0.552000											OREG0020385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					1.58986e-06	2.20114e-06	0.069234	1	0
STAT1	6772	broad.mit.edu	37	2	191855977	191855977	+	Silent	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:191855977C>G	ENST00000361099.3	-	11	1401	c.1014G>C	c.(1012-1014)ggG>ggC	p.G338G	STAT1_ENST00000392322.3_Silent_p.G338G|STAT1_ENST00000392323.2_Silent_p.G340G|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.G338G	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	338					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TGAACTGGACCCCTGTCTTCA	0.478000													16	71					0	0	0.132662	0	0
EXT2	2132	broad.mit.edu	37	11	44257898	44257898	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:44257898C>T	ENST00000395673.3	+	13	2146	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	EXT2_ENST00000533608.1_Missense_Mutation_p.S664L|EXT2_ENST00000358681.4_Missense_Mutation_p.S674L|EXT2_ENST00000343631.3_Missense_Mutation_p.S664L	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	664					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic 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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGGGCTTTCACTAGACCAA	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				14	65					0	0	0.119110	0	0
PICALM	8301	broad.mit.edu	37	11	85742606	85742606	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:85742606C>G	ENST00000526033.1	-	2	494	c.178G>C	c.(178-180)Gca>Cca	p.A60P	PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Missense_Mutation_p.A60P|PICALM_ENST00000393346.3_Missense_Mutation_p.A60P|PICALM_ENST00000528398.1_Missense_Mutation_p.A9P|PICALM_ENST00000356360.5_Missense_Mutation_p.A60P	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	60	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAACTGTCTGCCAACTGTGGG	0.328000			T	"""MLLT10, MLL"""	"""TALL, AML, """								4	29					0	0	0.014758	0	0
PAX5	5079	broad.mit.edu	37	9	37020659	37020659	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:37020659A>T	ENST00000358127.4	-	2	260	c.186T>A	c.(184-186)caT>caA	p.H62Q	PAX5_ENST00000414447.1_Missense_Mutation_p.H62Q|PAX5_ENST00000377847.2_Missense_Mutation_p.H62Q|PAX5_ENST00000377853.2_Missense_Mutation_p.H62Q|PAX5_ENST00000446742.1_Missense_Mutation_p.H62Q|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.H62Q|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.H62Q|PAX5_ENST00000520281.1_Missense_Mutation_p.H62Q|PAX5_ENST00000377852.2_Missense_Mutation_p.H62Q	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	62	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGACACAACCATGGCTGACCC	0.522000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								15	104					0	0	0.049695	0	0
ASXL2	55252	broad.mit.edu	37	2	25972653	25972653	+	Missense_Mutation	SNP	C	C	G	rs146506022	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:25972653C>G	ENST00000435504.4	-	12	2065	c.1772G>C	c.(1771-1773)cGc>cCc	p.R591P	ASXL2_ENST00000272341.4_Missense_Mutation_p.R331P|ASXL2_ENST00000404843.1_Missense_Mutation_p.R331P|ASXL2_ENST00000336112.4_Missense_Mutation_p.R563P			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGCTGGCGATTCTCAGT	0.537000													6	41					0	0	0.038147	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817573	183817573	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:183817573T>A	ENST00000360982.2	-	23	3227	c.2469A>T	c.(2467-2469)ttA>ttT	p.L823F	NCKAP1_ENST00000361354.3_Missense_Mutation_p.L817F	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	817					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTCTGTAGGTAAGTTCACAA	0.338000													7	51					0	0	0.047766	0	0
TIAM1	7074	broad.mit.edu	37	21	32639193	32639193	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:32639193G>A	ENST00000286827.3	-	5	567	c.96C>T	c.(94-96)ctC>ctT	p.L32L	TIAM1_ENST00000541036.1_Silent_p.L32L|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTGTGCGAGAGGCGCAGGG	0.597000													5	34					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179495957	179495957	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:179495957C>G	ENST00000589042.1	-	237	44042	c.43818G>C	c.(43816-43818)caG>caC	p.Q14606H	TTN_ENST00000460472.2_Missense_Mutation_p.Q5541H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q5666H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q5733H|TTN_ENST00000591111.1_Missense_Mutation_p.Q12965H|TTN_ENST00000342992.6_Missense_Mutation_p.Q12038H|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12965	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TAATTTCACACTGTAGAATAA	0.363000													4	52					0	0	0.009096	0	0
SETBP1	26040	broad.mit.edu	37	18	42533272	42533272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:42533272G>T	ENST00000282030.5	+	4	4263	c.3967G>T	c.(3967-3969)Gag>Tag	p.E1323*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1323						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAACCGCAAGGAGAGAAGTTC	0.458000									Schinzel-Giedion syndrome				8	89					0.000157383	0.000192853	0.038147	1	0
TACC2	10579	broad.mit.edu	37	10	123970023	123970023	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:123970023A>G	ENST00000369005.1	+	9	6423	c.6083A>G	c.(6082-6084)aAg>aGg	p.K2028R	TACC2_ENST00000515273.1_Missense_Mutation_p.K2032R|TACC2_ENST00000369004.3_Missense_Mutation_p.K106R|TACC2_ENST00000360561.3_Missense_Mutation_p.K106R|TACC2_ENST00000515603.1_Missense_Mutation_p.K1983R|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.K2032R|TACC2_ENST00000260733.3_Missense_Mutation_p.K106R|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.K174R|TACC2_ENST00000368999.1_Missense_Mutation_p.K106R|TACC2_ENST00000334433.3_Missense_Mutation_p.K2028R|TACC2_ENST00000358010.1_Missense_Mutation_p.K174R|TACC2_ENST00000369000.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2028						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GATGAAGACAAGCCGATAGCC	0.552000													15	53					0	0	0.043863	0	0
AHNAK	79026	broad.mit.edu	37	11	62295107	62295107	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:62295107G>C	ENST00000378024.4	-	5	7056	c.6782C>G	c.(6781-6783)cCa>cGa	p.P2261R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2261					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTCTGGGCCCTCTCC	0.532000													31	197					0	0	0.054565	0	0
RBM17	84991	broad.mit.edu	37	10	6154179	6154179	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:6154179G>T	ENST00000446108.1	+	8	1355	c.711G>T	c.(709-711)acG>acT	p.T237T	RBM17_ENST00000379888.4_Silent_p.T237T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	237	G-patch.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCAGGGGCACGGTGGCGCACA	0.557000													3	39					0.004672	0.00518339	0.115264	1	0
UACA	55075	broad.mit.edu	37	15	70980140	70980140	+	Silent	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:70980140A>G	ENST00000322954.6	-	6	629	c.444T>C	c.(442-444)tcT>tcC	p.S148S	UACA_ENST00000560441.1_Silent_p.S135S|UACA_ENST00000379983.2_Silent_p.S135S|UACA_ENST00000539319.1_Silent_p.S148S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	148						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GCTGTATGCTAGAAGGACAAT	0.368000													9	59					0	0	0.069234	0	0
PTPRQ	374462	broad.mit.edu	37	12	81064171	81064171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:81064171G>T	ENST00000266688.5	+	47	6490	c.6490G>T	c.(6490-6492)Gag>Tag	p.E2164*						protein tyrosine phosphatase, receptor type, Q											breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGCCTGGCCAGAGCATGGGGT	0.463000													3	13					2.56e-06	3.50878e-06	0.009096	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769558	31769558	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:31769558G>A	ENST00000240587.4	-	2	1468	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	381					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R381R(2)|p.R198R(2)|p.R198W(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCGACTTCCGGGCCTCAAAG	0.552000													33	155					0	0	0.064281	0	0
SNTG1	54212	broad.mit.edu	37	8	51705341	51705341	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:51705341T>A	ENST00000522124.1	+	19	2167	c.1506T>A	c.(1504-1506)tcT>tcA	p.S502S	SNTG1_ENST00000518864.1_Silent_p.S502S|SNTG1_ENST00000517473.1_Silent_p.S465S|SNTG1_ENST00000276467.5_Silent_p.S465S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	502					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTACTGCTTCTACTGCTGCCA	0.418000													12	81					0	0	0.119110	0	0
NID1	4811	broad.mit.edu	37	1	236148782	236148782	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:236148782G>A	ENST00000264187.6	-	15	3034	c.2952C>T	c.(2950-2952)gcC>gcT	p.A984A	NID1_ENST00000366595.3_Silent_p.A851A	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	984					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGCAGTCAAAGGCCAGTCCAA	0.483000													8	83					0	0	0.058154	0	0
TRIO	7204	broad.mit.edu	37	5	14507326	14507326	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:14507326T>A	ENST00000344204.4	+	56	8732	c.8708T>A	c.(8707-8709)gTc>gAc	p.V2903D	TRIO_ENST00000537187.1_Missense_Mutation_p.V2727D|TRIO_ENST00000344135.5_Missense_Mutation_p.V402D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2903	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGGAAGCTGTCCGGTACCTG	0.632000													3	23					0	0	0.115264	0	0
NTRK2	4915	broad.mit.edu	37	9	87549124	87549124	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:87549124G>A	ENST00000376214.1	+	17	2619	c.1681G>A	c.(1681-1683)Ggc>Agc	p.G561S	NTRK2_ENST00000277120.3_Missense_Mutation_p.G561S|NTRK2_ENST00000376213.1_Missense_Mutation_p.G545S|NTRK2_ENST00000323115.4_Missense_Mutation_p.G545S	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	545	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AAGGGAGCTAGGCGAAGGAGC	0.448000										TSP Lung(25;0.17)			11	51					0	0	0.093190	0	0
C12orf74	338809	broad.mit.edu	37	12	93100912	93100912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:93100912C>T	ENST00000544406.2	+	2	771	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.Q169*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	169										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCCTAGTCCTCAGGTAACACA	0.547000													8	50					0	0	0.080935	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578420	85578420	+	RNA	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:85578420G>A	ENST00000590707.1	+	0	143					NR_003719.2																						AAAGTGTTGTGACGTGTTCAT	0.428000													6	21					0	0	0.021553	0	0
KNG1	3827	broad.mit.edu	37	3	186460062	186460062	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:186460062A>G	ENST00000265023.4	+	10	2089	c.1877A>G	c.(1876-1878)aAt>aGt	p.N626S	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	626					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGTGAAATTAATCCAACCACA	0.373000													6	67					0	0	0.029380	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332270	100332270	+	RNA	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:100332270G>A	ENST00000341853.1	-	0	1921					NR_003260.1																						GGGCCAGTCTGTGAGTGGGGA	0.662000													6	26					0	0	0.029380	0	0
BMPER	168667	broad.mit.edu	37	7	34085926	34085926	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:34085926G>A	ENST00000297161.2	+	8	959	c.585G>A	c.(583-585)agG>agA	p.R195R	BMPER_ENST00000494786.1_3'UTR|BMPER_ENST00000426693.1_Silent_p.R195R	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	195	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGGAGGCAGGACACAATGTG	0.443000													63	493					0	0	0.139131	0	0
DNAH7	56171	broad.mit.edu	37	2	196788436	196788436	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:196788436C>A	ENST00000312428.6	-	23	3808	c.3708G>T	c.(3706-3708)ctG>ctT	p.L1236L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1236	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						CAAGTGCTCCCAGAGTTACGC	0.408000													14	107					1.52009e-12	2.62184e-12	0.132662	1	0
RP1L1	94137	broad.mit.edu	37	8	10467409	10467409	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:10467409G>T	ENST00000382483.3	-	4	4422	c.4199C>A	c.(4198-4200)cCa>cAa	p.P1400Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1400					intracellular signal transduction					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)		TCCTTCTTCTGGAAGTCCTTC	0.557000													35	233					7.04047e-22	1.35052e-21	0.080422	1	0
CPS1	1373	broad.mit.edu	37	2	211421527	211421527	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:211421527A>G	ENST00000233072.5	+	1	266	c.70A>G	c.(70-72)Act>Gct	p.T24A	CPS1_ENST00000430249.2_Missense_Mutation_p.T30A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	24					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TACCAATGTGACTGCACACCA	0.373000													7	88					0	0	0.058154	0	0
ARCN1	372	broad.mit.edu	37	11	118454055	118454055	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:118454055G>T	ENST00000359415.4	+	4	717	c.552G>T	c.(550-552)gtG>gtT	p.V184V	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Silent_p.V55V|ARCN1_ENST00000264028.4_Silent_p.V143V			P48444	COPD_HUMAN	archain 1	143					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGGAGAAGGTGTTCAGAGCCG	0.403000													5	26					0.0293803	0.0311242	0.029380	1	0
COL21A1	81578	broad.mit.edu	37	6	56035800	56035800	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:56035800C>A	ENST00000244728.5	-	4	1164	c.767G>T	c.(766-768)gGa>gTa	p.G256V	COL21A1_ENST00000370819.1_Missense_Mutation_p.G256V|COL21A1_ENST00000535941.1_Missense_Mutation_p.G256V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	256	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACTTCATATCCTTTTATCTT	0.338000													12	40					0.00136819	0.00156447	0.093190	1	0
DNAH11	8701	broad.mit.edu	37	7	21894027	21894027	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:21894027T>C	ENST00000328843.6	+	69	11208	c.11177T>C	c.(11176-11178)aTt>aCt	p.I3726T	DNAH11_ENST00000409508.3_Missense_Mutation_p.I3719T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3726					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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						TATTTTGTTATTAATGACCTC	0.378000									Kartagener syndrome				11	61					0	0	0.093190	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480591	35480591	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:35480591C>A	ENST00000357182.4	-	5	828	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	ZMYM6_ENST00000487874.1_Missense_Mutation_p.D201Y|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D201Y|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	201					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TAACTTACATCAGCATTCTTC	0.328000													6	34					5.18039e-06	6.96089e-06	0.038147	1	0
DNAH1	25981	broad.mit.edu	37	3	52392594	52392594	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:52392594G>T	ENST00000420323.2	+	25	4368	c.4107G>T	c.(4105-4107)ctG>ctT	p.L1369L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1369	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGGACCTGGAGATCACGC	0.632000													3	9					0.004672	0.00518339	0.115264	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305599	39305599	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:39305599A>C	ENST00000343246.4	-	1	455	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	146	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caggggcggcagcagctggat	0.652000													5	32					0	0	0.029380	0	0
COL19A1	1310	broad.mit.edu	37	6	70916936	70916936	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:70916936C>A	ENST00000322773.4	+	51	3489	c.3387C>A	c.(3385-3387)ctC>ctA	p.L1129L	COL19A1_ENST00000393344.1_Silent_p.L751L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1129					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGATTGCCTCTATCCTGTGT	0.537000													33	191					6.53348e-20	1.2388e-19	0.064281	1	0
KCNT2	343450	broad.mit.edu	37	1	196311306	196311306	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:196311306C>T	ENST00000367433.5	-	15	1557	c.1456G>A	c.(1456-1458)Ggg>Agg	p.G486R	KCNT2_ENST00000294725.8_Missense_Mutation_p.G486R|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.G97R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	486	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTCATTCCCGGAGCATCTA	0.413000													17	61					0	0	0.038395	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420597	89420597	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:89420597G>T	ENST00000532352.1	+	0	1412							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAGTTCAGTGGCATGCCCAGG	0.338000													11	71					1.15088e-07	1.67234e-07	0.146539	1	0
LRRC15	131578	broad.mit.edu	37	3	194080144	194080144	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:194080144G>T	ENST00000347624.3	-	2	1714	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	LRRC15_ENST00000439944.2_Silent_p.A549A|LRRC15_ENST00000428839.1_Silent_p.A549A	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	543						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAATTACAATGGCGGCAATGG	0.597000													3	9					0.115264	0.120244	0.115264	1	0
TET1	80312	broad.mit.edu	37	10	70446363	70446363	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:70446363A>G	ENST00000373644.4	+	11	5512	c.5303A>G	c.(5302-5304)cAt>cGt	p.H1768R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1768					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTCTTGCACATAAGATAAGG	0.483000													17	69					0	0	0.038395	0	0
TMEM132E	124842	broad.mit.edu	37	17	32953939	32953939	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:32953939G>T	ENST00000321639.5	+	3	919	c.591G>T	c.(589-591)gaG>gaT	p.E197D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	197						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCTGCAGGAGCACAGGCTGG	0.692000													7	17					0.000157383	0.000192853	0.038147	1	0
SLC39A8	64116	broad.mit.edu	37	4	103236956	103236956	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:103236956T>C	ENST00000424970.2	-	3	566	c.251A>G	c.(250-252)cAt>cGt	p.H84R	SLC39A8_ENST00000356736.4_Missense_Mutation_p.H84R|SLC39A8_ENST00000394833.2_Missense_Mutation_p.H84R|SLC39A8_ENST00000510255.1_5'UTR	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	84						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TGAAAAGCCATGAAGGGAAAA	0.368000													6	111					0	0	0.021553	0	0
GPAT2	150763	broad.mit.edu	37	2	96690378	96690378	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:96690378A>T	ENST00000434632.1	-	16	1925	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	GPAT2_ENST00000359548.4_Missense_Mutation_p.L489Q|GPAT2_ENST00000453542.1_Missense_Mutation_p.L418Q|GPAT2_ENST00000377137.3_Missense_Mutation_p.L489Q			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	489					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCCACGCAACAGTATCTCCTC	0.652000													7	54					0	0	0.080935	0	0
PRX	57716	broad.mit.edu	37	19	40900086	40900086	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:40900086C>A	ENST00000324001.7	-	7	4443	c.4173G>T	c.(4171-4173)cgG>cgT	p.R1391R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1391					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCCTGCCCCCGAGAGGCTT	0.697000													10	53					1.08611e-07	1.58947e-07	0.080935	1	0
F13B	2165	broad.mit.edu	37	1	197026148	197026148	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:197026148C>A	ENST00000367412.1	-	7	1209	c.1166G>T	c.(1165-1167)tGt>tTt	p.C389F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	389	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CATACCAACACACTCAGGAGG	0.373000													10	46					2.27111e-07	3.26547e-07	0.093190	1	0
INPP4B	8821	broad.mit.edu	37	4	143067139	143067139	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:143067139C>A	ENST00000513000.1	-	19	2007	c.1574G>T	c.(1573-1575)tGg>tTg	p.W525L	INPP4B_ENST00000508116.1_Missense_Mutation_p.W525L|INPP4B_ENST00000509777.1_Missense_Mutation_p.W525L|INPP4B_ENST00000262992.4_Missense_Mutation_p.W525L|INPP4B_ENST00000308502.4_Missense_Mutation_p.W525L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	525					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CACATTGGCCCACACCCTGTC	0.423000													36	286					3.33393e-15	6.13713e-15	0.074837	1	0
PLXND1	23129	broad.mit.edu	37	3	129285420	129285420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:129285420G>A	ENST00000393239.1	-	23	4319	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	PLXND1_ENST00000324093.4_Nonsense_Mutation_p.Q1381*			Q9Y4D7	PLXD1_HUMAN	plexin D1	1381					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGCTGCCCTGGGAGTTGAGG	0.632000													4	19					0	0	0.009096	0	0
LMTK2	22853	broad.mit.edu	37	7	97823189	97823189	+	Nonsense_Mutation	SNP	G	G	T	rs142016830	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:97823189G>T	ENST00000297293.5	+	11	3705	c.3412G>T	c.(3412-3414)Gag>Tag	p.E1138*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1138					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCCTACCCGAGCCAGTCCT	0.577000													9	10					1.61879e-10	2.66338e-10	0.093190	1	0
EFCAB4B	84766	broad.mit.edu	37	12	3806162	3806162	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:3806162C>G	ENST00000440314.2	-	4	477	c.4G>C	c.(4-6)Gct>Cct	p.A2P	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.A2P|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.A2P	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	2					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCAGGGGCAGCCATCGCGATT	0.557000													8	26					0	0	0.038147	0	0
DEPDC1	55635	broad.mit.edu	37	1	68954103	68954103	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:68954103C>A	ENST00000456315.2	-	5	789	c.675G>T	c.(673-675)atG>atT	p.M225I	DEPDC1_ENST00000370966.5_Missense_Mutation_p.M225I	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	225					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTGTATTGGCCATGTTGTACA	0.338000													4	60					0.000602214	0.000702298	0.014758	1	0
DMRT3	58524	broad.mit.edu	37	9	990262	990262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:990262G>T	ENST00000190165.2	+	2	714	c.676G>T	c.(676-678)Gag>Tag	p.E226*		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	226					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTGTCACGCGGAGCAGAATCA	0.562000													4	34					3.59834e-05	4.59445e-05	0.021553	1	0
ABCC1	4363	broad.mit.edu	37	16	16219688	16219688	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:16219688C>T	ENST00000399408.2	+	27	3944	c.3769C>T	c.(3769-3771)Ctg>Ttg	p.L1257L	ABCC1_ENST00000345148.5_Silent_p.L1247L|ABCC1_ENST00000346370.5_Silent_p.L1191L|ABCC1_ENST00000399410.3_Silent_p.L1247L|ABCC1_ENST00000351154.5_Silent_p.L1188L|ABCC1_ENST00000349029.5_Silent_p.L1132L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1247					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTTGAACTGGCTGGTTCGGAT	0.502000													3	44					0	0	0.115264	0	0
URB2	9816	broad.mit.edu	37	1	229772365	229772365	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:229772365C>A	ENST00000258243.2	+	4	2141	c.2005C>A	c.(2005-2007)Ctt>Att	p.L669I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	669						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTTCAGCTCTCTTGGTACATA	0.443000													21	134					6.44725e-10	1.03585e-09	0.069288	1	0
TJP1	7082	broad.mit.edu	37	15	30020222	30020222	+	Splice_Site	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:30020222C>T	ENST00000346128.6	-	16	2493	c.2017_splice	c.e16-1	p.K673_splice	TJP1_ENST00000356107.6_Splice_Site_p.K673_splice|TJP1_ENST00000400011.2_Splice_Site_p.K677_splice|TJP1_ENST00000545208.2_Splice_Site_p.K673_splice	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	673	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.K673N(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTGGTTCACTCTCTATTCATT	0.398000													6	32					0	0	0.021553	0	0
ZNF251	90987	broad.mit.edu	37	8	145947717	145947717	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:145947717C>T	ENST00000292562.7	-	5	1603	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGAACTCCGACGAAAGGCTTT	0.493000													9	82					0	0	0.093190	0	0
MYH7B	57644	broad.mit.edu	37	20	33568395	33568395	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:33568395C>T	ENST00000262873.7	+	6	575	c.483C>T	c.(481-483)ctC>ctT	p.L161L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	119	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACTCAGGCCTCTTCTGTGTCA	0.522000													31	202					0	0	0.059317	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449921	105449921	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:105449921G>T	ENST00000337685.2	+	5	1281	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	MUM1L1_ENST00000372552.1_Missense_Mutation_p.D166Y|MUM1L1_ENST00000357175.2_Missense_Mutation_p.D166Y	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	166										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCCCTGTATGATGATAAATC	0.428000													4	26					0.00024832	0.00029937	0.009096	1	0
IBTK	25998	broad.mit.edu	37	6	82881188	82881188	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:82881188G>A	ENST00000306270.7	-	29	4565	c.4016C>T	c.(4015-4017)cCg>cTg	p.P1339L	IBTK_ENST00000510291.1_Missense_Mutation_p.P1324L|IBTK_ENST00000503631.1_Missense_Mutation_p.P1138L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1339					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGGTCCCTGCGGTGtcctttc	0.413000													4	53					0	0	0.009096	0	0
ABI3BP	25890	broad.mit.edu	37	3	100557248	100557248	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:100557248G>T	ENST00000383691.4	-	0	246				ABI3BP_ENST00000471714.1_Missense_Mutation_p.P676H|ABI3BP_ENST00000284322.5_Intron|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P676H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein							extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATGATTACCAGGCTGAATTTG	0.373000													3	8					0.004672	0.00518339	0.115264	1	0
ASXL1	171023	broad.mit.edu	37	20	31024005	31024005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:31024005G>T	ENST00000375687.4	+	13	3914	c.3490G>T	c.(3490-3492)Gga>Tga	p.G1164*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.G1159*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1164					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CATGGTTGATGGAAGCAGCCC	0.517000			"""F, N, Mis"""		"""MDS, CMML"""								10	47					2.80697e-09	4.38123e-09	0.080935	1	0
SCFD2	152579	broad.mit.edu	37	4	54179819	54179819	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:54179819T>A	ENST00000401642.3	-	3	1252	c.1119A>T	c.(1117-1119)ccA>ccT	p.P373P	SCFD2_ENST00000388940.4_Silent_p.P373P	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	373					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCATCTTGATTGGCAGGTTTT	0.478000													6	45					0	0	0.029380	0	0
GPR98	84059	broad.mit.edu	37	5	89990056	89990056	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:89990056G>C	ENST00000405460.2	+	33	7579	c.7483G>C	c.(7483-7485)Ggt>Cgt	p.G2495R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2495					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTTTTTAGTGGTCAGGCTGT	0.478000													15	54					0	0	0.049695	0	0
HAS1	3036	broad.mit.edu	37	19	52220291	52220291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:52220291C>T	ENST00000540069.2	-	3	915	c.855G>A	c.(853-855)tgG>tgA	p.W285*	HAS1_ENST00000601714.1_Nonsense_Mutation_p.W293*|HAS1_ENST00000222115.1_Nonsense_Mutation_p.W286*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.W140*			Q92839	HAS1_HUMAN	hyaluronan synthase 1	286					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAAGGCTACCCAGTATCGCA	0.592000													32	132					0	0	0.050027	0	0
BCAS2	10286	broad.mit.edu	37	1	115110861	115110861	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:115110861T>A	ENST00000369541.3	-	7	615	c.568A>T	c.(568-570)Agt>Tgt	p.S190C	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	190					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTCTTACTGACCAGGGAT	0.338000													5	83					0	0	0.014758	0	0
RCBTB2	1102	broad.mit.edu	37	13	49075967	49075967	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:49075967C>A	ENST00000344532.3	-	12	1578	c.1155G>T	c.(1153-1155)aaG>aaT	p.K385N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.K111N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K390N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	385							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAAATTCCCTCTTCAGTGACT	0.433000													9	31					1.12685e-05	1.48977e-05	0.047766	1	0
APOB	338	broad.mit.edu	37	2	21232405	21232405	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:21232405C>G	ENST00000233242.1	-	26	7462	c.7335G>C	c.(7333-7335)gaG>gaC	p.E2445D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2445					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCTGAGTCACCTCACGGATTT	0.373000													37	187					0	0	0.104719	0	0
WBP1L	54838	broad.mit.edu	37	10	104557800	104557800	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:104557800A>T	ENST00000369889.4	+	2	220	c.78A>T	c.(76-78)acA>acT	p.T26T	WBP1L_ENST00000448841.1_Silent_p.T47T	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	26						integral to membrane											TCTGTGACACAGGACACTGCT	0.433000													14	62					0	0	0.132662	0	0
DOCK6	57572	broad.mit.edu	37	19	11326604	11326604	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:11326604C>A	ENST00000294618.7	-	31	3906		c.e31-1		DOCK6_ENST00000319867.7_Splice_Site|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTTTTTCCCCTGGGGGTGCA	0.562000													3	11					2.56e-06	3.50878e-06	0.009096	1	0
HERC2	8924	broad.mit.edu	37	15	28501352	28501352	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:28501352C>T	ENST00000261609.7	-	18	2737	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	877					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCAGCACGCCCGCACTGCTG	0.667000													7	29					0	0	0.047766	0	0
DHRS2	10202	broad.mit.edu	37	14	24113676	24113676	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:24113676C>A	ENST00000250383.6	+	7	1075	c.599C>A	c.(598-600)gCa>gAa	p.A200E	DHRS2_ENST00000344777.7_Missense_Mutation_p.A200E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	178					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		AGAACACTGGCATTGGAGCTG	0.517000													7	35					0.000157383	0.000192853	0.038147	1	0
KEAP1	9817	broad.mit.edu	37	19	10610277	10610277	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:10610277T>A	ENST00000171111.5	-	2	980	c.433A>T	c.(433-435)Atc>Ttc	p.I145F	KEAP1_ENST00000393623.2_Missense_Mutation_p.I145F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	145	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			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)			CCCATGGAGATGGAGGCCGTG	0.592000													5	16					0	0	0.021553	0	0
NUDT6	11162	broad.mit.edu	37	4	123814263	123814263	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:123814263T>G	ENST00000304430.5	-	5	704	c.671A>C	c.(670-672)tAt>tCt	p.Y224S	NUDT6_ENST00000502270.1_Missense_Mutation_p.Y55S|NUDT6_ENST00000339154.2_Missense_Mutation_p.Y55S|FGF2_ENST00000264498.3_3'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	224	Nudix hydrolase.					mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GCAGATGATATACATATCTGA	0.418000													9	71					0	0	0.047766	0	0
ECM1	1893	broad.mit.edu	37	1	150482377	150482377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:150482377C>A	ENST00000369049.4	+	4	418	c.284C>A	c.(283-285)tCa>tAa	p.S95*	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369047.4_Intron|ECM1_ENST00000346569.6_Intron	NM_001202858.1	NP_001189787.1	Q16610	ECM1_HUMAN	extracellular matrix protein 1	74					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGGGCTGCTCACACATTCCC	0.577000													7	102					0.00307968	0.00346834	0.038147	1	0
OR5B3	441608	broad.mit.edu	37	11	58170551	58170551	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:58170551T>A	ENST00000309403.2	-	1	331	c.332A>T	c.(331-333)tAc>tTc	p.Y111F		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGCCAAGAGGTAATTTTCCAC	0.453000													43	200					0	0	0.104719	0	0
SPESP1	246777	broad.mit.edu	37	15	69238076	69238076	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:69238076C>G	ENST00000310673.3	+	2	357	c.203C>G	c.(202-204)gCa>gGa	p.A68G	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	68					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TATTCTATAGCATCAAAGGGA	0.373000													20	116					0	0	0.062417	0	0
STS	412	broad.mit.edu	37	X	7177473	7177473	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:7177473G>T	ENST00000217961.4	+	5	701	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	161					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TTATTTCTATGGGATCTCTTT	0.527000									Ichthyosis				15	56					6.31663e-08	9.41189e-08	0.132662	1	0
SP110	3431	broad.mit.edu	37	2	231037615	231037615	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:231037615T>A	ENST00000258381.6	-	15	1728	c.1651A>T	c.(1651-1653)Act>Tct	p.T551S	AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.T551S|AC009950.2_ENST00000595586.1_RNA|AC009950.2_ENST00000454058.1_RNA	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	551					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CGTGGACAAGTACCGCAGCAG	0.592000													9	55					0	0	0.069234	0	0
LCTL	197021	broad.mit.edu	37	15	66850083	66850083	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:66850083G>T	ENST00000341509.5	-	8	1030	c.899C>A	c.(898-900)cCc>cAc	p.P300H	LCTL_ENST00000537670.1_Missense_Mutation_p.P127H	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	300					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATGACTTGGGGGTAGTCACC	0.502000													19	101					3.51602e-12	6.01385e-12	0.049695	1	0
FCGBP	8857	broad.mit.edu	37	19	40384136	40384136	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:40384136C>A	ENST00000221347.6	-	21	9481	c.9474G>T	c.(9472-9474)gaG>gaT	p.E3158D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3158	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCACAGACCTCATAGTGGC	0.622000													12	127					1.66031e-10	2.72622e-10	0.091800	1	0
ANK2	287	broad.mit.edu	37	4	114294557	114294557	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:114294557C>A	ENST00000357077.4	+	45	11864	c.11811C>A	c.(11809-11811)tcC>tcA	p.S3937S	ANK2_ENST00000509550.1_Silent_p.S1028S|ANK2_ENST00000394537.3_Silent_p.S1852S|ANK2_ENST00000264366.6_Silent_p.S3904S|ANK2_ENST00000510275.2_Silent_p.S535S|ANK2_ENST00000506722.1_Silent_p.S1843S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3904					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		ATGGCTATTCCAAAGTTATAA	0.448000													14	126					2.23348e-06	3.07151e-06	0.146539	1	0
KCNH8	131096	broad.mit.edu	37	3	19498354	19498354	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:19498354G>T	ENST00000328405.2	+	11	2186	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	640						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGATCTCCAGTGTATCATCC	0.413000													9	82					0.00621372	0.00683842	0.058154	1	0
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:73964157C>A	ENST00000358602.4	-	26	4770	c.4654G>T	c.(4654-4656)Gca>Tca	p.A1552S	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1439S|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1301S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1552					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			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)			TGAGAACCTGCCAAAGTTGTC	0.368000													7	80					8.12818e-05	0.00010111	0.029380	1	0
NDUFV1	4723	broad.mit.edu	37	11	67376993	67376993	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:67376993C>T	ENST00000322776.6	+	4	550	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	NDUFV1_ENST00000532303.1_Missense_Mutation_p.H32Y|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H126Y|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H124Y|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	133					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GATCTTACGCCATGATCCTCA	0.637000													7	42					0	0	0.029380	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132885	91132885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:91132885C>A	ENST00000373094.1	+	2	2491	c.1646C>A	c.(1645-1647)cCc>cAc	p.P549H	PCDH11X_ENST00000361724.1_Missense_Mutation_p.P549H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P549H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P549H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P549H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P549H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P549H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P549H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P549H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	549	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P549R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGGGTACCACCCTTAACCAGC	0.378000													11	49					1.08611e-07	1.58947e-07	0.080935	1	0
RPH3A	22895	broad.mit.edu	37	12	113307697	113307697	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:113307697G>T	ENST00000389385.4	+	10	1146		c.e10-1		RPH3A_ENST00000549913.2_Splice_Site|RPH3A_ENST00000420983.2_Splice_Site|RPH3A_ENST00000447659.2_Splice_Site|RPH3A_ENST00000415485.3_Splice_Site|RPH3A_ENST00000551052.1_Splice_Site|RPH3A_ENST00000548866.1_Splice_Site|RPH3A_ENST00000543106.2_Splice_Site	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)						intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTTCTTTCCAGGCCCTGACCC	0.547000													39	113					4.16155e-14	7.49261e-14	0.104719	1	0
PCDHA1	56147	broad.mit.edu	37	5	140168198	140168198	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140168198G>T	ENST00000504120.2	+	1	2323	c.2323G>T	c.(2323-2325)Ggc>Tgc	p.G775C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G775C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGCCCAGGCCTATCTCC	0.522000													6	30					0.00116845	0.0013398	0.021553	1	0
DOCK10	55619	broad.mit.edu	37	2	225637952	225637952	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:225637952C>T	ENST00000409592.3	-	53	6221	c.6108G>A	c.(6106-6108)gaG>gaA	p.E2036E	DOCK10_ENST00000258390.7_Silent_p.E2042E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2042	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTGATTAAGCTCAGAAACCT	0.458000													26	70					0	0	0.091800	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476975	20476975	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:20476975G>T	ENST00000573854.1	+	3	428	c.314G>T	c.(313-315)cGt>cTt	p.R105L	ACSM2A_ENST00000424070.1_Missense_Mutation_p.R105L|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R105L|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R105L|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R105L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R26L|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	105					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCCTGCAGCGTGGGGATCGT	0.577000													8	44					1.05317e-09	1.67568e-09	0.119110	1	0
FOXN4	121643	broad.mit.edu	37	12	109719546	109719546	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:109719546C>A	ENST00000299162.5	-	9	1064	c.960G>T	c.(958-960)ccG>ccT	p.P320P	FOXN4_ENST00000355216.1_Silent_p.P140P	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	320					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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.P320P(1)|p.P140P(1)		large_intestine(5)|lung(9)|ovary(2)	16						CTGGTTCCCCCGGTTTGCCGG	0.672000													4	10					0.00909568	0.00986467	0.009096	1	0
DCAF6	55827	broad.mit.edu	37	1	168014281	168014281	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:168014281A>G	ENST00000367840.3	+	16	2168	c.2074A>G	c.(2074-2076)Agc>Ggc	p.S692G	DCAF6_ENST00000367843.3_Missense_Mutation_p.S635G|DCAF6_ENST00000432587.2_Missense_Mutation_p.S661G|DCAF6_ENST00000312263.6_Missense_Mutation_p.S615G	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	615	IQ.				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATCAGACTAGCACTGAGAG	0.458000													26	122					0	0	0.099896	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852876	53852876	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:53852876G>A	ENST00000331251.3	+	1	1886	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	137					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			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)				CCGCTACCTGGTGGTGTTGGC	0.662000													7	14					0	0	0.047766	0	0
BMPR1B	658	broad.mit.edu	37	4	96052579	96052579	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:96052579G>A	ENST00000515059.1	+	10	1275	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	BMPR1B_ENST00000440890.2_Missense_Mutation_p.R361Q|BMPR1B_ENST00000264568.4_Missense_Mutation_p.R331Q|BMPR1B_ENST00000394931.1_Missense_Mutation_p.R331Q	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	331	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATTGCCCATCGAGATCTGAAA	0.388000													21	143					0	0	0.049695	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056265	48056265	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:48056265G>T	ENST00000316364.5	+	10	1404		c.e10+1		SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site|SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGCTCAATAGGTGAGAGCAGA	0.463000													36	144					3.6622e-26	7.10796e-26	0.064281	1	0
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1354					intracellular signal transduction			p.A1354A(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)		cctctaactgcgcctcttctt	0.478000													10	76					0	0	0.080935	0	0
HNRNPU	3192	broad.mit.edu	37	1	245023681	245023681	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:245023681C>T	ENST00000444376.2	-	4	1150	c.916G>A	c.(916-918)Gca>Aca	p.A306T	HNRNPU_ENST00000283179.9_Missense_Mutation_p.A325T	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	325	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCATAGGATGCTCTTCCTCCA	0.373000													5	33					0	0	0.021553	0	0
NOMO1	23420	broad.mit.edu	37	16	14970272	14970272	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:14970272G>A	ENST00000287667.7	+	21	2584	c.2413G>A	c.(2413-2415)Ggc>Agc	p.G805S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	805						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTTTTTAGAAGGCCAGATCCA	0.507000													24	117					0	0	0.125774	0	0
MAGI1	9223	broad.mit.edu	37	3	65342808	65342808	+	Splice_Site	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:65342808C>G	ENST00000330909.8	-	25	3807		c.e25-1		MAGI1_ENST00000402939.2_Splice_Site	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1						cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCTGGGGTCTGCCAGGAAA	0.632000													7	40					0	0	0.058154	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984536	128984536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:128984536C>A	ENST00000274487.4	+	13	2176	c.2031C>A	c.(2029-2031)taC>taA	p.Y677*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	677	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y677Y(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GAAAACAATACAGAATATGTG	0.383000													22	99					7.41877e-09	1.14274e-08	0.062417	1	0
FZD10	11211	broad.mit.edu	37	12	130647912	130647912	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:130647912A>T	ENST00000229030.4	+	1	909	c.425A>T	c.(424-426)gAc>gTc	p.D142V	FZD10_ENST00000539839.1_Silent_p.R109R			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	142	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AACAAGAACGACCCCAACTAC	0.662000													14	33					0	0	0.146539	0	0
BIN1	274	broad.mit.edu	37	2	127826587	127826587	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:127826587C>A	ENST00000316724.5	-	6	843	c.432G>T	c.(430-432)ggG>ggT	p.G144G	BIN1_ENST00000409400.1_Silent_p.G144G|BIN1_ENST00000393041.3_Silent_p.G144G|BIN1_ENST00000348750.4_Silent_p.G144G|BIN1_ENST00000259238.4_Silent_p.G144G|BIN1_ENST00000393040.3_Silent_p.G144G|BIN1_ENST00000351659.3_Silent_p.G144G|BIN1_ENST00000346226.3_Silent_p.G144G|BIN1_ENST00000376113.2_Silent_p.G144G|BIN1_ENST00000357970.3_Silent_p.G144G|BIN1_ENST00000352848.3_Silent_p.G144G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	144	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CCAGCTTGCGCCCCCGCTTGG	0.607000													4	25					0.00909568	0.00986467	0.009096	1	0
CHMP4C	92421	broad.mit.edu	37	8	82667720	82667720	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:82667720G>T	ENST00000297265.4	+	3	676		c.e3+1			NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C						cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CTTTGATGAGGTACGTAACCC	0.413000													8	57					1.12685e-05	1.48977e-05	0.047766	1	0
PHYKPL	85007	broad.mit.edu	37	5	177641884	177641884	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:177641884C>T	ENST00000308158.5	-	10	1319	c.1085G>A	c.(1084-1086)gGt>gAt	p.G362D	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		GAGCCCAACACCCCTGCAAGG	0.572000													11	43					0	0	0.119110	0	0
VNN2	8875	broad.mit.edu	37	6	133073612	133073612	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:133073612G>A	ENST00000326499.6	-	4	938	c.814C>T	c.(814-816)Cta>Tta	p.L272L	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Silent_p.L219L	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	272	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCATATTTAGGCTGACATGA	0.378000													14	128					0	0	0.105934	0	0
TLR10	81793	broad.mit.edu	37	4	38777082	38777082	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:38777082C>A	ENST00000308973.4	-	4	735	c.130G>T	c.(130-132)Gca>Tca	p.A44S	TLR10_ENST00000361424.2_Missense_Mutation_p.A44S|TLR10_ENST00000506111.1_Missense_Mutation_p.A44S|TLR10_ENST00000508334.1_Missense_Mutation_p.A44S	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	44					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.A44T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTCAAGTCTGCGGGAACCTTT	0.448000													3	37					6.4e-05	8.04833e-05	0.115264	1	0
THPO	7066	broad.mit.edu	37	3	184090955	184090955	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:184090955C>A	ENST00000204615.7	-	6	622	c.408G>T	c.(406-408)caG>caT	p.Q136H	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Splice_Site|THPO_ENST00000477594.1_5'UTR|THPO_ENST00000421442.2_Missense_Mutation_p.Q136H	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	136					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGTCCTGCCCTGTGGAGGAA	0.567000													12	58					1.3612e-06	1.90059e-06	0.132662	1	0
KIAA1429	25962	broad.mit.edu	37	8	95503892	95503892	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:95503892G>A	ENST00000297591.5	-	22	5129	c.5054C>T	c.(5053-5055)tCt>tTt	p.S1685F	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1685					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACCACGGGAAGAAATCTTCTG	0.443000													3	64					0	0	0.115264	0	0
FSCB	84075	broad.mit.edu	37	14	44975465	44975465	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:44975465A>T	ENST00000340446.4	-	1	1017	c.726T>A	c.(724-726)gtT>gtA	p.V242V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	242						cilium				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)		CTTCTTGTACAACAGGTACAG	0.403000													11	67					0	0	0.132662	0	0
TRAK1	22906	broad.mit.edu	37	3	42251330	42251330	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:42251330G>T	ENST00000327628.5	+	14	2216	c.1816G>T	c.(1816-1818)Ggt>Tgt	p.G606C	TRAK1_ENST00000341421.3_Missense_Mutation_p.G548C|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.G548C	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	606					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCCCGGCCCGGTGTGGTCAC	0.577000													10	44					3.07112e-06	4.18141e-06	0.080935	1	0
PRPF40A	55660	broad.mit.edu	37	2	153512879	153512879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:153512879C>A	ENST00000410080.1	-	26	3275	c.2734G>T	c.(2734-2736)Gaa>Taa	p.E912*		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	939					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						AATTCCCCTTCACTCAGTTCG	0.383000													11	62					2.68362e-12	4.59969e-12	0.093190	1	0
CPEB1	64506	broad.mit.edu	37	15	83221258	83221258	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:83221258A>T	ENST00000563800.1	-	8	2978	c.1253T>A	c.(1252-1254)aTg>aAg	p.M418K	CPEB1_ENST00000450751.2_Missense_Mutation_p.M316K|CPEB1_ENST00000423133.2_Missense_Mutation_p.M316K|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.C126S|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.M316K|CPEB1_ENST00000568128.1_Missense_Mutation_p.M391K|CPEB1_ENST00000261723.6_Missense_Mutation_p.M394K|CPEB1_ENST00000568757.1_Missense_Mutation_p.M316K|CPEB1_ENST00000562019.1_Missense_Mutation_p.M396K|CPEB1_ENST00000398591.2_Missense_Mutation_p.M321K|CPEB1_ENST00000398592.2_Missense_Mutation_p.M165K			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	396	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCGGCTGGACATCTTGAAATA	0.498000													14	118					0	0	0.105934	0	0
IPMK	253430	broad.mit.edu	37	10	59955884	59955884	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:59955884C>A	ENST00000373935.3	-	6	1526	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	402						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TGCTTTAGCCCATAAACATAT	0.403000													5	93					3.59834e-05	4.59445e-05	0.021553	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121659286	121659286	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:121659286G>T	ENST00000393386.2	+	13	5363	c.4952G>T	c.(4951-4953)tGt>tTt	p.C1651F	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C791F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1651					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTTTTATCTGTCTAGTGGTT	0.403000													10	47					0.000978159	0.00113428	0.080935	1	0
KIAA0196	9897	broad.mit.edu	37	8	126056113	126056113	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:126056113G>A	ENST00000318410.7	-	23	3153	c.2804C>T	c.(2803-2805)gCc>gTc	p.A935V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.A787V|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	935					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTGTTTTGGCAATGGCGGA	0.338000													17	63					0	0	0.062417	0	0
SCIN	85477	broad.mit.edu	37	7	12692317	12692317	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:12692317G>T	ENST00000297029.5	+	16	2226	c.2125G>T	c.(2125-2127)Ggc>Tgc	p.G709C	SCIN_ENST00000445618.2_Missense_Mutation_p.G462C|SCIN_ENST00000519209.1_Missense_Mutation_p.G462C	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	709	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTGGTTCCTGGGCTGGGATTC	0.453000													22	130					4.54149e-19	8.55174e-19	0.069288	1	0
GLP2R	9340	broad.mit.edu	37	17	9729482	9729482	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:9729482C>A	ENST00000262441.5	+	1	615	c.102C>A	c.(100-102)acC>acA	p.T34T	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	34					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CCTGGGGGACCAGTCCTCTCT	0.642000													5	23					0.014758	0.0158176	0.014758	1	0
LPAL2	80350	broad.mit.edu	37	6	160905197	160905197	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:160905197C>A	ENST00000335388.5	-	0	930					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GCAGTACTCCCATCTGACTTT	0.498000													9	143					1.58986e-06	2.20114e-06	0.069234	1	0
CDH18	1016	broad.mit.edu	37	5	19591206	19591206	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:19591206G>T	ENST00000507958.1	-	9	1949	c.959C>A	c.(958-960)aCt>aAt	p.T320N	CDH18_ENST00000502796.1_Missense_Mutation_p.T320N|CDH18_ENST00000506372.1_Missense_Mutation_p.T320N|CDH18_ENST00000511273.1_Missense_Mutation_p.T320N|CDH18_ENST00000274170.4_Missense_Mutation_p.T320N|CDH18_ENST00000382275.1_Missense_Mutation_p.T320N			Q13634	CAD18_HUMAN	cadherin 18, type 2	320	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					CTCTTTGTCAGTGGAGATTGA	0.393000													17	135					1.02788e-11	1.73284e-11	0.033300	1	0
PAX5	5079	broad.mit.edu	37	9	37020661	37020661	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:37020661G>T	ENST00000358127.4	-	2	258	c.184C>A	c.(184-186)Cat>Aat	p.H62N	PAX5_ENST00000414447.1_Missense_Mutation_p.H62N|PAX5_ENST00000377847.2_Missense_Mutation_p.H62N|PAX5_ENST00000377853.2_Missense_Mutation_p.H62N|PAX5_ENST00000446742.1_Missense_Mutation_p.H62N|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.H62N|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.H62N|PAX5_ENST00000520281.1_Missense_Mutation_p.H62N|PAX5_ENST00000377852.2_Missense_Mutation_p.H62N	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	62	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ACACAACCATGGCTGACCCGA	0.527000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								14	100					5.3912e-06	7.23232e-06	0.038395	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969457	47969457	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:47969457C>A	ENST00000236877.6	-	2	599	c.204G>T	c.(202-204)aaG>aaT	p.K68N	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	68					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			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)		CCCGTGCCGCCTTGTCACCCA	0.652000													5	23					1.23904e-05	1.63021e-05	0.014758	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457307	110457307	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:110457307G>T	ENST00000378402.5	+	38	5313	c.5209G>T	c.(5209-5211)Gga>Tga	p.G1737*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1737	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CCAGTGCCAGGGAAACTGCAC	0.433000										HNSCC(38;0.096)			23	170					3.62473e-10	5.85808e-10	0.062417	1	0
OR4C46	119749	broad.mit.edu	37	11	51515308	51515308	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:51515308G>A	ENST00000328188.1	+	1	27	c.27G>A	c.(25-27)gaG>gaA	p.E9E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ACATGACAGAGTTTGTTTTGC	0.308000													23	71					0	0	0.069288	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735795	162735795	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:162735795C>A	ENST00000375514.5	+	9	1333	c.1046C>A	c.(1045-1047)aCc>aAc	p.T349N	SLC4A10_ENST00000535165.1_Missense_Mutation_p.T368N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.T368N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.T368N|SLC4A10_ENST00000415876.2_Missense_Mutation_p.T338N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.T338N|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	368					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCAATCCCAACCAGGTAAAAA	0.383000													27	130					0.00127121	0.0014556	0.125774	1	0
TTN	7273	broad.mit.edu	37	2	179443597	179443597	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:179443597G>A	ENST00000589042.1	-	320	68384	c.68160C>T	c.(68158-68160)gcC>gcT	p.A22720A	TTN_ENST00000460472.2_Silent_p.A13655A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A13780A|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.A13847A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A21079A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.A20152A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21079	Fibronectin type-III 65.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			ATTTATTTTCGGCACTGACCC	0.453000													8	98					0	0	0.038147	0	0
CILP2	148113	broad.mit.edu	37	19	19653355	19653355	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:19653355G>T	ENST00000586018.1	+	5	884	c.782G>T	c.(781-783)aGc>aTc	p.S261I	CILP2_ENST00000291495.4_Missense_Mutation_p.S255I			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	255						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGTGCTGACAGCCGCGCCAAC	0.632000													3	15					0.115264	0.120244	0.115264	1	0
GPC4	2239	broad.mit.edu	37	X	132437212	132437212	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:132437212C>A	ENST00000370828.3	-	8	1974	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	GPC4_ENST00000535467.1_Missense_Mutation_p.V414L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	484					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AAGAAGTCCACGTCGTTCCCA	0.408000													8	71					5.18039e-06	6.96089e-06	0.038147	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232561520	232561520	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:232561520G>A	ENST00000366630.1	-	17	4803	c.4445C>T	c.(4444-4446)tCg>tTg	p.S1482L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1482L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S556L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1482					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCGGTAAAGCGACCTCCTTGG	0.547000													4	59					0	0	0.009096	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634379	70634379	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:70634379C>A	ENST00000381269.2	-	2	1514	c.761G>T	c.(760-762)cGa>cTa	p.R254L	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R254L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R254L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R254L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R254L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	254	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGAGCAGTCGTTTATCTGC	0.507000													14	56					6.31663e-08	9.41189e-08	0.132662	1	0
ENOPH1	58478	broad.mit.edu	37	4	83375948	83375948	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:83375948G>T	ENST00000273920.3	+	4	731	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	ENOPH1_ENST00000509635.1_Missense_Mutation_p.G67W	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	155					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CTATTCCTCAGGGAGTGTGGA	0.443000													8	98					1.76689e-08	2.69132e-08	0.058154	1	0
GPAT2	150763	broad.mit.edu	37	2	96691745	96691745	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:96691745C>G	ENST00000434632.1	-	13	1630	c.1171G>C	c.(1171-1173)Gcc>Ccc	p.A391P	GPAT2_ENST00000359548.4_Missense_Mutation_p.A391P|GPAT2_ENST00000453542.1_Missense_Mutation_p.A320P|GPAT2_ENST00000377137.3_Missense_Mutation_p.A391P			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	391					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGCTTCTGGCACTGACGATG	0.622000													4	24					0	0	0.021553	0	0
KRT75	9119	broad.mit.edu	37	12	52822430	52822430	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:52822430C>A	ENST00000252245.5	-	6	1353	c.1133G>T	c.(1132-1134)aGa>aTa	p.R378I		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	378	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AATCTCAGCTCTCAGCCTCTG	0.502000													4	52					0.014758	0.0158176	0.014758	1	0
NME9	347736	broad.mit.edu	37	3	138023736	138023736	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:138023736G>C	ENST00000383180.2	-	10	824	c.587C>G	c.(586-588)gCc>gGc	p.A196G	NME9_ENST00000484930.1_Missense_Mutation_p.A194G|NME9_ENST00000333911.3_Missense_Mutation_p.A257G|NME9_ENST00000317876.4_Missense_Mutation_p.A196G|NME9_ENST00000536478.1_Missense_Mutation_p.A196G|NME9_ENST00000341790.5_Missense_Mutation_p.A194G	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	257	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CTCCCTCCTGGCCACATTGGG	0.592000													22	152					0	0	0.069288	0	0
ITGA10	8515	broad.mit.edu	37	1	145539419	145539419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:145539419G>T	ENST00000369304.3	+	26	3263	c.3088G>T	c.(3088-3090)Gag>Tag	p.E1030*	ITGA10_ENST00000539363.1_Nonsense_Mutation_p.E887*|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.E899*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1030					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGCATCCAGAGGAGCTTCA	0.542000													7	36					1.33987e-11	2.24956e-11	0.069234	1	0
STC1	6781	broad.mit.edu	37	8	23702417	23702417	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:23702417G>T	ENST00000290271.2	-	4	893	c.610C>A	c.(610-612)Caa>Aaa	p.Q204K	STC1_ENST00000524323.1_Missense_Mutation_p.Q135K	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	204					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGTGTGTTTGGGCACAGTGG	0.547000													13	129					0.105934	0.111502	0.105934	1	0
ST18	9705	broad.mit.edu	37	8	53084629	53084629	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:53084629T>C	ENST00000276480.7	-	10	1475	c.792A>G	c.(790-792)gcA>gcG	p.A264A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGGGGTTCTGCGAGAGCAT	0.488000													11	61					0	0	0.119110	0	0
UBR3	130507	broad.mit.edu	37	2	170917828	170917828	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:170917828G>T	ENST00000272793.5	+	35	4944	c.4893_splice	c.e35-1	p.V1632_splice	UBR3_ENST00000418381.1_Splice_Site_p.V1632_splice|UBR3_ENST00000392631.1_Splice_Site_p.V453_splice			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1632					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAACTTTAGGTTAACCCTAT	0.318000													8	114					5.18039e-06	6.96089e-06	0.038147	1	0
CALD1	800	broad.mit.edu	37	7	134618538	134618538	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:134618538G>A	ENST00000361675.2	+	5	1247	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	340	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.E340K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aagggcagcagaggagaggca	0.527000													8	43					0	0	0.047766	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309943	89309943	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:89309943C>A	ENST00000493819.1	-	0	69																											GAGCGGGGACCCTCATGTCCA	0.577000													12	71					2.32078e-09	3.65713e-09	0.132662	1	0
ZNF831	128611	broad.mit.edu	37	20	57768030	57768030	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:57768030T>A	ENST00000371030.2	+	1	1956	c.1956T>A	c.(1954-1956)agT>agA	p.S652R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	652						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAATGGGCAGTGGGGCAGAAC	0.572000													17	56					0	0	0.038395	0	0
ACKR4	51554	broad.mit.edu	37	3	132320151	132320151	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:132320151G>A	ENST00000249887.2	+	2	1006	c.910G>A	c.(910-912)Gtt>Att	p.V304I	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		AATCCTTTATGTTTTTATGGG	0.453000													26	361					0	0	0.074837	0	0
OTOGL	283310	broad.mit.edu	37	12	80762069	80762069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:80762069G>T	ENST00000458043.2	+	54	6574	c.6568G>T	c.(6568-6570)Gga>Tga	p.G2190*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.G2178*|OTOGL_ENST00000546620.1_Nonsense_Mutation_p.G209*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGGAAAATGGAACATCAGT	0.403000													5	15					0.0215528	0.0229505	0.021553	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148989257	148989257	+	Splice_Site	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:148989257G>A	ENST00000333677.6	+	4	620	c.458_splice	c.e4+1	p.V153_splice		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	153	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGAGGCGGTGGTGTGAGTAGA	0.602000													4	17					0	0	0.014758	0	0
KATNBL1	79768	broad.mit.edu	37	15	34439591	34439591	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:34439591G>T	ENST00000256544.3	-	6	740	c.598C>A	c.(598-600)Ctc>Atc	p.L200I		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		CAATTGGTGAGCACAGGAAGG	0.318000													4	15					0.00024832	0.00029937	0.009096	1	0
DNAH7	56171	broad.mit.edu	37	2	196729163	196729163	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:196729163C>A	ENST00000312428.6	-	41	7316	c.7216G>T	c.(7216-7218)Gag>Tag	p.E2406*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2406	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						AGAAAAGACTCTTCTTTAATT	0.383000													9	59					1.58986e-06	2.20114e-06	0.069234	1	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631651	99631651	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:99631651G>A	ENST00000324306.6	+	6	1757	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R472Q|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.R295Q	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	508					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATTTTGCATCGGAGAATTCAC	0.488000													17	45					0	0	0.146539	0	0
IWS1	55677	broad.mit.edu	37	2	128252491	128252491	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:128252491T>C	ENST00000295321.4	-	8	2015	c.1756A>G	c.(1756-1758)Aaa>Gaa	p.K586E	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	586					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTTAATTTTTTCAGTGCTGGC	0.259000													15	59					0	0	0.038395	0	0
OR5R1	219479	broad.mit.edu	37	11	56185246	56185246	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:56185246C>T	ENST00000312253.1	-	1	462	c.463G>A	c.(463-465)Gtt>Att	p.V155I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAGAGGGCAACCAGGAAGCTG	0.448000													27	175					0	0	0.116897	0	0
HTR1A	3350	broad.mit.edu	37	5	63256398	63256398	+	Silent	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:63256398G>C	ENST00000323865.3	-	1	1382	c.1149C>G	c.(1147-1149)gcC>gcG	p.A383A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	383					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AATTGATTATGGCGCCCAACA	0.507000													42	240					0	0	0.139131	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54645457	54645457	+	Missense_Mutation	SNP	G	G	A	rs144334570		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:54645457G>A	ENST00000230640.5	+	12	1551	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D332N	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	433	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTGCTTATCCGATGAAGATAA	0.308000													4	37					0	0	0.009096	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925346	47925346	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:47925346G>A	ENST00000289672.2	-	18	3193	c.3143C>T	c.(3142-3144)tCc>tTc	p.S1048F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1048	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGTCATCAGGGATCCCTTGCT	0.597000													18	110					0	0	0.043863	0	0
PRKD1	5587	broad.mit.edu	37	14	30066734	30066734	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:30066734C>A	ENST00000331968.5	-	16	2626	c.2397G>T	c.(2395-2397)atG>atT	p.M799I	PRKD1_ENST00000415220.2_Missense_Mutation_p.M807I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	799	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTGGTGGATACATGAAAGCTG	0.343000													8	88					0.00448238	0.00501367	0.047766	1	0
SLAMF1	6504	broad.mit.edu	37	1	160607008	160607008	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:160607008G>A	ENST00000302035.6	-	2	737	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	SLAMF1_ENST00000355199.3_Missense_Mutation_p.R130C|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R130C|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R130C|SLAMF1_ENST00000494463.1_5'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	130					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			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)			AGGCAAAAGCGCTGAACTGAA	0.483000													21	240					0	0	0.076483	0	0
APOB	338	broad.mit.edu	37	2	21256304	21256304	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:21256304C>T	ENST00000233242.1	-	9	1118	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	APOB_ENST00000399256.4_Missense_Mutation_p.E331K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	331	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTTCAGTTCCTGGAGAGTC	0.458000													17	163					0	0	0.033300	0	0
C1orf173	127254	broad.mit.edu	37	1	75102078	75102078	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:75102078T>C	ENST00000326665.5	-	6	707	c.489A>G	c.(487-489)ccA>ccG	p.P163P		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	163										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTAATCGAATTGGAGGCTGCA	0.413000													69	363					0	0	0.139131	0	0
USP13	8975	broad.mit.edu	37	3	179483594	179483594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:179483594G>T	ENST00000263966.3	+	19	2842	c.2371G>T	c.(2371-2373)Gag>Tag	p.E791*	USP13_ENST00000496897.1_Nonsense_Mutation_p.E726*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	791					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CATTATTTCTGAGGCCAAGCC	0.453000													6	67					0.00198382	0.00225272	0.029380	1	0
SLC22A11	55867	broad.mit.edu	37	11	64335165	64335165	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:64335165G>T	ENST00000301891.4	+	7	1527	c.1153G>T	c.(1153-1155)Gac>Tac	p.D385Y	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D385Y	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	385					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CGGGGCCGTGGACTTCCTGGG	0.642000													3	15					0.004672	0.00518339	0.115264	1	0
NLRP8	126205	broad.mit.edu	37	19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	rs149738419		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512000													4	23					0	0	0.009096	0	0
NHP2	55651	broad.mit.edu	37	5	177580533	177580533	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:177580533C>A	ENST00000274606.3	-	2	338	c.189G>T	c.(187-189)ggG>ggT	p.G63G	NHP2_ENST00000314397.4_Silent_p.G63G	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	63					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						CCTCTTTCACCCCGCGCCGAA	0.537000													4	30					0.00909568	0.00986467	0.009096	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995949	57995949	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:57995949C>A	ENST00000316770.2	-	1	441	c.399G>T	c.(397-399)ccG>ccT	p.P133P		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P133P(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGTAGTGCAGCGGGTGGCAGA	0.612000													16	85					4.14922e-12	7.06744e-12	0.146539	1	0
C11orf63	79864	broad.mit.edu	37	11	122805773	122805773	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:122805773G>C	ENST00000227349.2	+	5	1921	c.1624G>C	c.(1624-1626)Gaa>Caa	p.E542Q	C11orf63_ENST00000531316.1_Missense_Mutation_p.E542Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	542										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CAGGAACTTAGAAATGTTATG	0.393000													10	63					0	0	0.093190	0	0
NEB	4703	broad.mit.edu	37	2	152554122	152554122	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:152554122C>A	ENST00000427231.2	-	14	1395	c.1193G>T	c.(1192-1194)aGc>aTc	p.S398I	NEB_ENST00000409198.1_Missense_Mutation_p.S398I|NEB_ENST00000603639.1_Missense_Mutation_p.S398I|NEB_ENST00000172853.10_Missense_Mutation_p.S398I|NEB_ENST00000397345.3_Missense_Mutation_p.S398I|NEB_ENST00000604864.1_Missense_Mutation_p.S398I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	398					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTAATTTATGCTCTTTGCTTT	0.358000													15	167					3.41278e-10	5.52642e-10	0.033300	1	0
AKNAD1	254268	broad.mit.edu	37	1	109395075	109395075	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:109395075A>G	ENST00000370001.3	-	2	480	c.212T>C	c.(211-213)aTa>aCa	p.I71T	AKNAD1_ENST00000369995.3_Missense_Mutation_p.I71T|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Missense_Mutation_p.I71T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	71										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACCCAGGGGTATGGTCACAGC	0.408000													20	107					0	0	0.055883	0	0
KCNH1	3756	broad.mit.edu	37	1	210971035	210971035	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:210971035T>A	ENST00000367007.4	-	9	1818	c.1649A>T	c.(1648-1650)aAg>aTg	p.K550M	KCNH1_ENST00000271751.4_Missense_Mutation_p.K577M	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	577					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CGGGTGCTCCTTGAACACCTT	0.602000													4	41					0	0	0.009096	0	0
SLC17A2	10246	broad.mit.edu	37	6	25916033	25916033	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:25916033G>T	ENST00000377850.3	-	9	1518	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	SLC17A2_ENST00000360488.3_Missense_Mutation_p.L332M|SLC17A2_ENST00000265425.3_Missense_Mutation_p.L332M			O00624	NPT3_HUMAN	solute carrier family 17, member 2	332					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAATCTGCCAGCTGACCTCCT	0.438000													17	58					4.75885e-15	8.70159e-15	0.033300	1	0
ITLN1	55600	broad.mit.edu	37	1	160851976	160851976	+	Missense_Mutation	SNP	C	C	A	rs117373725	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:160851976C>A	ENST00000326245.3	-	4	291	c.176G>T	c.(175-177)cGc>cTc	p.R59L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	59	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATTCTCAGTGCGGAGAAAATA	0.562000													6	69					0.00198382	0.00225272	0.029380	1	0
PENK	5179	broad.mit.edu	37	8	57358389	57358389	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:57358389C>A	ENST00000314922.3	-	1	200	c.124G>T	c.(124-126)Gac>Tac	p.D42Y	PENK_ENST00000523051.1_Missense_Mutation_p.D42Y|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Missense_Mutation_p.D42Y|PENK_ENST00000518770.1_Missense_Mutation_p.D42Y	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	42					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)			AAGTTGATGTCGGCCGGGCGC	0.677000													12	17					4.3838e-07	6.21606e-07	0.105934	1	0
MERTK	10461	broad.mit.edu	37	2	112767571	112767571	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:112767571A>T	ENST00000295408.4	+	15	2264	c.2007A>T	c.(2005-2007)gtA>gtT	p.V669V	MERTK_ENST00000409780.1_Silent_p.V493V|MERTK_ENST00000421804.2_Silent_p.V669V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	669	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGCCCATGGTAATTTTACCCT	0.418000													20	118					0	0	0.049695	0	0
SOGA2	23255	broad.mit.edu	37	18	8784395	8784395	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:8784395G>T	ENST00000359865.3	+	6	1427	c.1285G>T	c.(1285-1287)Ggg>Tgg	p.G429W	SOGA2_ENST00000306329.11_Missense_Mutation_p.G789W|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Missense_Mutation_p.G429W|SOGA2_ENST00000517570.1_Missense_Mutation_p.G429W	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	780																	GTCGGGCTTCGGGAGCGGGAA	0.647000													10	41					2.17888e-05	2.83047e-05	0.058154	1	0
PGBD5	79605	broad.mit.edu	37	1	230472853	230472853	+	Splice_Site	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:230472853C>T	ENST00000321327.2	-	6	1165		c.e6+1		PGBD5_ENST00000525115.1_Splice_Site|PGBD5_ENST00000391860.1_Splice_Site			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		ACTTGACTAACCTTGCTTCTC	0.597000													14	79					0	0	0.119110	0	0
GABRR2	2570	broad.mit.edu	37	6	89975453	89975453	+	Silent	SNP	C	C	A	rs146287342		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:89975453C>A	ENST00000402938.3	-	7	901	c.768G>T	c.(766-768)acG>acT	p.T256T	GABRR2_ENST00000602399.1_Silent_p.T281T			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	281					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGCGACGCAACGTGAAGTTAA	0.517000													5	54					0.00116845	0.0013398	0.021553	1	0
FTMT	94033	broad.mit.edu	37	5	121188108	121188108	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:121188108G>C	ENST00000321339.1	+	1	459	c.450G>C	c.(448-450)caG>caC	p.Q150H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	150	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGCCGGAACAGGACGACTGGG	0.587000													19	72					0	0	0.055883	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604647	160604647	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:160604647G>T	ENST00000302035.6	-	3	805	c.456C>A	c.(454-456)acC>acA	p.T152T	SLAMF1_ENST00000355199.3_Silent_p.T152T|SLAMF1_ENST00000538290.1_Silent_p.T152T|SLAMF1_ENST00000235739.5_Silent_p.T152T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	152	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			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)			CGTTCTCCTGGGTCTTGTTTA	0.542000													22	187					1.55795e-14	2.82981e-14	0.062417	1	0
ZNF133	7692	broad.mit.edu	37	20	18296997	18296997	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:18296997G>A	ENST00000377671.3	+	7	2058	c.1499G>A	c.(1498-1500)cGa>cAa	p.R500Q	ZNF133_ENST00000401790.1_Missense_Mutation_p.R501Q|ZNF133_ENST00000396026.3_Missense_Mutation_p.R504Q|ZNF133_ENST00000538547.1_Missense_Mutation_p.R406Q|ZNF133_ENST00000316358.4_Missense_Mutation_p.R501Q|ZNF133_ENST00000402618.2_Missense_Mutation_p.R438Q|ZNF133_ENST00000535822.1_Missense_Mutation_p.R406Q|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	501						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAGTGCGGGCGAGGCTTCAGC	0.617000													5	96					0	0	0.134883	0	0
TENM1	10178	broad.mit.edu	37	X	123554179	123554179	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:123554179C>A	ENST00000422452.2	-	25	5027	c.4964G>T	c.(4963-4965)gGa>gTa	p.G1655V	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1648V	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGTTGTCCATCCATTTTCGTT	0.388000													14	48					1.15088e-07	1.67234e-07	0.146539	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459119	45459119	+	RNA	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:45459119G>C	ENST00000548424.1	+	0	448																											CGCATATTCAGCATAGTAGTA	0.532000													12	71					0	0	0.105934	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846611	47846611	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:47846611C>A	ENST00000339488.4	-	3	2002	c.1969G>T	c.(1969-1971)Gtc>Ttc	p.V657F		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	657						integral to membrane	hedgehog receptor activity										GGCACTGTGACAGACAAGCTG	0.473000													31	143					2.61193e-14	4.72334e-14	0.144211	1	0
ESPNP	284729	broad.mit.edu	37	1	17046501	17046501	+	RNA	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:17046501C>T	ENST00000492551.1	-	0	151					NR_026567.1																						GGGGAAGTCTCCTTTGGCTGC	0.627000													3	12					0	0	0.115264	0	0
ANKLE2	23141	broad.mit.edu	37	12	133313587	133313587	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:133313587C>A	ENST00000539605.1	-	7	7983	c.1299G>T	c.(1297-1299)tgG>tgT	p.W433C	ANKLE2_ENST00000357997.5_Missense_Mutation_p.W495C|ANKLE2_ENST00000337516.5_Missense_Mutation_p.W495C			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	495						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGTCTGGGGACCACAGCTCCC	0.647000													8	19					0.0381472	0.0403074	0.038147	1	0
LCT	3938	broad.mit.edu	37	2	136567367	136567367	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:136567367C>A	ENST00000264162.2	-	8	2560	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	850	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTTTGCCCCCTTGGTGAGGA	0.483000													8	110					1.12685e-05	1.48977e-05	0.047766	1	0
MDGA2	161357	broad.mit.edu	37	14	47351301	47351301	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:47351301G>C	ENST00000426342.1	-	11	2214	c.1468C>G	c.(1468-1470)Cct>Gct	p.P490A	MDGA2_ENST00000399232.2_Missense_Mutation_p.P788A|MDGA2_ENST00000439988.2_Missense_Mutation_p.P719A|MDGA2_ENST00000357362.3_Missense_Mutation_p.P490A|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	719	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGGTGAGAGGAGTCAGTCGG	0.303000													3	26					0	0	0.115264	0	0
OR8U1	219417	broad.mit.edu	37	11	56143608	56143608	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:56143608A>T	ENST00000302270.1	+	1	509	c.509A>T	c.(508-510)cAc>cTc	p.H170L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TCCTATTGCCACTCCAACATT	0.463000													7	325					0	0	0.047766	0	0
TBX6	6911	broad.mit.edu	37	16	30097621	30097621	+	Silent	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:30097621G>C	ENST00000395224.2	-	9	1295	c.1236C>G	c.(1234-1236)ctC>ctG	p.L412L	TBX6_ENST00000279386.2_Silent_p.L412L	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	412					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGCCCCCTTGGAGAAAGTGCG	0.667000													3	22					0	0	0.009096	0	0
IGSF9B	22997	broad.mit.edu	37	11	133806017	133806017	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:133806017C>T	ENST00000321016.8	-	6	982	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R251Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	251	Ig-like 3.					integral to membrane|plasma membrane		p.R251L(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)		CGCCTCTGCCCGGCAGGTGAG	0.582000													10	50					0	0	0.069234	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795359	101795359	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:101795359C>A	ENST00000506729.1	-	5	1193		c.e5+1		SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Splice_Site|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000389019.3_Splice_Site|SLCO6A1_ENST00000514551.1_Splice_Site			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1							integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTATAGTCACCTGGCATATT	0.338000													31	143					3.6622e-26	7.10796e-26	0.064281	1	0
CSTL1	128817	broad.mit.edu	37	20	23420907	23420907	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:23420907G>T	ENST00000347397.1	+	2	249	c.3G>T	c.(1-3)atG>atT	p.M1I	CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000246020.2_Start_Codon_SNP_p.M1I	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	1						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTGTAGACATGGGGATCGGAT	0.567000													6	67					1.36491e-13	2.43607e-13	0.105934	1	0
DUSP19	142679	broad.mit.edu	37	2	183943810	183943810	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:183943810G>A	ENST00000354221.4	+	1	324	c.149G>A	c.(148-150)aGt>aAt	p.S50N	DUSP19_ENST00000342619.6_Missense_Mutation_p.S50N|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	50					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GAGCCGAGCAGTGGGGGTGGT	0.473000													6	52					0	0	0.021553	0	0
SDK2	54549	broad.mit.edu	37	17	71354344	71354344	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:71354344C>A	ENST00000392650.3	-	40	5468		c.e40-1		SDK2_ENST00000410094.1_Splice_Site|SDK2_ENST00000388726.3_Splice_Site	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2						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						CCTGGGGCACCTGCAGACAGC	0.642000													9	32					3.09899e-07	4.42481e-07	0.047766	1	0
PASK	23178	broad.mit.edu	37	2	242065750	242065750	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:242065750T>C	ENST00000403638.3	-	10	2671	c.2580A>G	c.(2578-2580)ccA>ccG	p.P860P	PASK_ENST00000234040.4_Silent_p.P860P|PASK_ENST00000544142.1_Silent_p.P674P|PASK_ENST00000405260.1_Silent_p.P860P|PASK_ENST00000358649.4_Silent_p.P860P|PASK_ENST00000539818.1_Silent_p.P644P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	860					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTCTGCTGATGGGCACGTGT	0.612000													16	87					0	0	0.033300	0	0
ZNF48	197407	broad.mit.edu	37	16	30409122	30409122	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:30409122G>A	ENST00000320159.2	+	2	927	c.551G>A	c.(550-552)cGg>cAg	p.R184Q		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCGGTCCCGGATCCCTGCT	0.602000													3	23					0	0	0.115264	0	0
DDX27	55661	broad.mit.edu	37	20	47852730	47852730	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:47852730G>T	ENST00000371764.4	+	13	1573	c.1564G>T	c.(1564-1566)Gtg>Ttg	p.V522L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	522	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCCACTGATGTGGCAGCCCG	0.507000													5	27					0.00116845	0.0013398	0.021553	1	0
SCYL3	57147	broad.mit.edu	37	1	169823654	169823654	+	Silent	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:169823654T>G	ENST00000367772.4	-	13	2123	c.1926A>C	c.(1924-1926)tcA>tcC	p.S642S	SCYL3_ENST00000367771.5_Silent_p.S588S|SCYL3_ENST00000367770.1_Silent_p.S642S	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	642	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCCTTTCTTGTGATGACACTT	0.443000													17	110					0	0	0.038395	0	0
GAS7	8522	broad.mit.edu	37	17	9923276	9923276	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:9923276G>T	ENST00000579158.1	-	0	43				GAS7_ENST00000578655.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000396115.1_Intron|GAS7_ENST00000542249.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7						cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTTAAACCAGGAAGGCAAAG	0.522000			T	MLL	AML*								8	15					0.0692343	0.0729671	0.069234	1	0
PDK4	5166	broad.mit.edu	37	7	95224411	95224411	+	Missense_Mutation	SNP	C	C	T	rs142205186		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:95224411C>T	ENST00000005178.5	-	2	393	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	66					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AGAATGTTGGCGAGTCTCACA	0.353000													4	94					0	0	0.009096	0	0
PKD1L2	114780	broad.mit.edu	37	16	81208495	81208495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:81208495C>A	ENST00000599697.1	-	16	2607	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	870	REJ.				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						GCTACATCCTCAACACATGTG	0.562000													15	70					1.99824e-07	2.88322e-07	0.033300	1	0
MLH3	27030	broad.mit.edu	37	14	75515020	75515020	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:75515020C>A	ENST00000355774.2	-	2	1554	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	MLH3_ENST00000556740.1_Missense_Mutation_p.G447C|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.G447C|MLH3_ENST00000238662.7_Missense_Mutation_p.G447C	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	447					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCTGGACCACCTGATTCA	0.368000								Mismatch excision repair (MMR)					10	51					1.61879e-10	2.66338e-10	0.093190	1	0
EID3	493861	broad.mit.edu	37	12	104698156	104698156	+	Silent	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:104698156T>G	ENST00000527879.1	+	1	640	c.444T>G	c.(442-444)ctT>ctG	p.L148L	TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000542918.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCATAGCTCTTTCCTTCTGGA	0.413000													16	159					0	0	0.146539	0	0
CDH18	1016	broad.mit.edu	37	5	19473591	19473591	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:19473591G>A	ENST00000507958.1	-	15	3107	c.2117C>T	c.(2116-2118)aCc>aTc	p.T706I	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.T706I|CDH18_ENST00000382275.1_Missense_Mutation_p.T706I			Q13634	CAD18_HUMAN	cadherin 18, type 2	706					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T706N(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)					GCTTTCCAGGGTGGATGATGT	0.493000													22	139					0	0	0.069288	0	0
MCHR2	84539	broad.mit.edu	37	6	100403948	100403948	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:100403948A>T	ENST00000281806.2	-	2	390	c.76T>A	c.(76-78)Tat>Aat	p.Y26N	MCHR2_ENST00000369212.1_Missense_Mutation_p.Y26N|MCHR2_ENST00000445970.1_Missense_Mutation_p.Y26N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	26						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCAGTTTGATAAGCAAACTCT	0.413000													15	77					0	0	0.132662	0	0
TFPI2	7980	broad.mit.edu	37	7	93518520	93518520	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:93518520C>A	ENST00000222543.5	-	3	599	c.287G>T	c.(286-288)tGc>tTc	p.C96F	GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCAGCCGGCAAACTTTGGG	0.403000													36	106					8.16277e-20	1.54061e-19	0.092188	1	0
HPX	3263	broad.mit.edu	37	11	6458672	6458672	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:6458672C>A	ENST00000265983.3	-	6	801	c.701G>T	c.(700-702)aGa>aTa	p.R234I		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	234					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TTTCTCACCTCTGCCAGGGCA	0.557000													23	77					2.39556e-15	4.41968e-15	0.076483	1	0
SNRPN	6638	broad.mit.edu	37	15	25222149	25222149	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:25222149C>A	ENST00000444203.2	+	5	1444	c.405C>A	c.(403-405)gtC>gtA	p.V135V	SNRPN_ENST00000554227.2_Silent_p.V135V|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Silent_p.V131V|SNRPN_ENST00000400100.1_Silent_p.V131V|SNRPN_ENST00000390687.4_Silent_p.V131V|SNRPN_ENST00000577565.1_Silent_p.V131V|SNRPN_ENST00000346403.6_Silent_p.V131V|SNRPN_ENST00000400097.1_Silent_p.V131V			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	131					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAGGCCCTGTCCGAGGAGTTG	0.577000									Prader-Willi syndrome				5	29					0.014758	0.0158176	0.014758	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72057190	72057190	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:72057190G>A	ENST00000378743.3	-	1	559	c.201C>T	c.(199-201)ggC>ggT	p.G67G	ZFC3H1_ENST00000552037.1_Silent_p.G67G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.G67G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	67	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACCGCCTCCGCCAGATCCAC	0.682000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	46					0	0	0.029380	0	0
PDC	5132	broad.mit.edu	37	1	186415572	186415572	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:186415572G>T	ENST00000391997.2	-	3	286	c.199C>A	c.(199-201)Cga>Aga	p.R67R	PDC_ENST00000497198.1_Silent_p.R15R|PDC_ENST00000340129.5_Silent_p.R67R|PDC_ENST00000456239.2_Silent_p.R15R	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	67					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTGCTGACTCGTTCCTTTGAA	0.343000													3	81					0.00024832	0.00029937	0.009096	1	0
UACA	55075	broad.mit.edu	37	15	70991968	70991968	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:70991968C>A	ENST00000322954.6	-	2	295	c.110G>T	c.(109-111)cGa>cTa	p.R37L	UACA_ENST00000560441.1_Missense_Mutation_p.R24L|UACA_ENST00000379983.2_Missense_Mutation_p.R24L|UACA_ENST00000539319.1_Missense_Mutation_p.R37L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	37						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATCAATCGGTCATCATA	0.363000													16	121					6.72482e-11	1.11537e-10	0.132662	1	0
ZNF208	7757	broad.mit.edu	37	19	22156642	22156642	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:22156642T>A	ENST00000397126.4	-	4	1342	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCTTCACATTTGTAGGGTT	0.393000													5	63					0	0	0.029380	0	0
PRELP	5549	broad.mit.edu	37	1	203452708	203452708	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:203452708C>A	ENST00000343110.2	+	2	523	c.396C>A	c.(394-396)aaC>aaA	p.N132K		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	132					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGATTAACCTGGACAACA	0.547000													12	129					2.80697e-09	4.38123e-09	0.080935	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71509364	71509364	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:71509364G>T	ENST00000265382.3	+	8	886	c.581G>T	c.(580-582)cGc>cTc	p.R194L	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.R194L	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	194	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GTTTTGCCACGCTCCATGAGA	0.418000													19	74					2.35188e-11	3.92458e-11	0.038395	1	0
CDH12	1010	broad.mit.edu	37	5	22078649	22078649	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:22078649C>A	ENST00000382254.1	-	5	1223	c.137G>T	c.(136-138)cGg>cTg	p.R46L	CDH12_ENST00000504376.2_Missense_Mutation_p.R46L|CDH12_ENST00000522262.1_Missense_Mutation_p.R46L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GAAATGTGACCGTTGTCCTGG	0.473000										HNSCC(59;0.17)			24	252					2.41591e-17	4.49765e-17	0.099896	1	0
ZNF525	170958	broad.mit.edu	37	19	53884223	53884223	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:53884223G>C	ENST00000467003.1	+	4	484	c.283G>C	c.(283-285)Gct>Cct	p.A95P	ZNF525_ENST00000600148.1_3'UTR|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.A131P					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TCACAGGCATGCTGGAAACAA	0.378000													9	94					0	0	0.069234	0	0
NAV2	89797	broad.mit.edu	37	11	20066693	20066693	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:20066693G>T	ENST00000396085.1	+	14	3740	c.3379G>T	c.(3379-3381)Ggt>Tgt	p.G1127C	NAV2_ENST00000349880.4_Missense_Mutation_p.G1127C|NAV2_ENST00000360655.4_Missense_Mutation_p.G1063C|NAV2_ENST00000533917.1_Missense_Mutation_p.G213C|NAV2_ENST00000396087.3_Missense_Mutation_p.G1150C|NAV2_ENST00000540292.1_Missense_Mutation_p.G1081C|NAV2_ENST00000527559.2_Missense_Mutation_p.G1079C|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.G213C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1150						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCAGAGTGGTTCCGCCGC	0.592000													23	109					4.26978e-12	7.25774e-12	0.083992	1	0
GMPS	8833	broad.mit.edu	37	3	155611337	155611337	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:155611337G>C	ENST00000496455.1	+	2	393	c.58G>C	c.(58-60)Ggc>Cgc	p.G20R	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	20					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTAAGGATGGCCACCACCA	0.408000			T	MLL	AML								9	70					0	0	0.069234	0	0
ZNF420	147923	broad.mit.edu	37	19	37618139	37618139	+	Silent	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:37618139A>G	ENST00000337995.3	+	5	461	c.246A>G	c.(244-246)gaA>gaG	p.E82E	ZNF420_ENST00000304239.7_Silent_p.E82E|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGATCTTGAAGAGTCCAATT	0.388000													15	50					0	0	0.132662	0	0
KRTAP19-6	337973	broad.mit.edu	37	21	31914010	31914010	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:31914010C>A	ENST00000334046.5	-	1	173	c.143G>T	c.(142-144)tGc>tTc	p.C48F		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	48						intermediate filament				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						TCCTTCACGGCATGATGGGCG	0.498000													36	226					1.57351e-24	3.03252e-24	0.064281	1	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998615	112998615	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:112998615G>T	ENST00000271277.6	+	6	726	c.501G>T	c.(499-501)caG>caT	p.Q167H		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	167						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCTAGTCAGCTGGAAGAGG	0.448000													17	46					1.99824e-07	2.88322e-07	0.033300	1	0
LRP1B	53353	broad.mit.edu	37	2	141267539	141267539	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:141267539C>A	ENST00000389484.3	-	52	9327	c.8356G>T	c.(8356-8358)Gac>Tac	p.D2786Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2786	LDL-receptor class A 17.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TCTGGACAGTCCCTTTCACCA	0.527000										TSP Lung(27;0.18)			10	151					6.40141e-05	8.04833e-05	0.080935	1	0
PMVK	10654	broad.mit.edu	37	1	154901623	154901623	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:154901623C>A	ENST00000368467.3	-	3	494	c.189G>T	c.(187-189)ctG>ctT	p.L63L		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	63					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCTGGTGTCCAGGAGTCTCT	0.542000													7	93					2.74318e-10	4.46855e-10	0.058154	1	0
NKAIN3	286183	broad.mit.edu	37	8	63831057	63831057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:63831057G>T	ENST00000523211.1	+	5	649	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	NKAIN3_ENST00000519049.1_3'UTR|NKAIN3_ENST00000328472.5_Nonsense_Mutation_p.E173*	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	173						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TATTTCCATGGAAGAAGAAGA	0.378000													4	26					1.23904e-05	1.63021e-05	0.014758	1	0
ARMC8	25852	broad.mit.edu	37	3	137953878	137953878	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:137953878G>T	ENST00000469044.1	+	7	802	c.531G>T	c.(529-531)ggG>ggT	p.G177G	ARMC8_ENST00000481646.1_Silent_p.G163G|ARMC8_ENST00000358441.2_Silent_p.G163G|ARMC8_ENST00000461822.1_Silent_p.G177G|ARMC8_ENST00000393058.3_Silent_p.G167G|ARMC8_ENST00000485396.1_Silent_p.G104G|ARMC8_ENST00000538260.1_Silent_p.G146G|ARMC8_ENST00000491704.1_Silent_p.G135G|ARMC8_ENST00000470821.1_Silent_p.G177G|ARMC8_ENST00000489213.1_Silent_p.G135G|ARMC8_ENST00000471453.1_Silent_p.G163G	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	177							binding	p.G163G(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCTTACAGGGGCCAGATCATC	0.333000													5	35					0.000602214	0.000702298	0.014758	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23213943	23213943	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:23213943G>T	ENST00000390318.2	+	0	132																											TGCCTTGCTGGGAGCCTCGAT	0.527000													11	137					2.80697e-09	4.38123e-09	0.080935	1	0
NPAS2	4862	broad.mit.edu	37	2	101541645	101541645	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:101541645C>A	ENST00000335681.5	+	3	355	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.Q89K	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	24	Helix-loop-helix motif.				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGTCGGGACCAGTTCAATGT	0.463000													23	106					1.22574e-08	1.87748e-08	0.069288	1	0
DDX60L	91351	broad.mit.edu	37	4	169351700	169351700	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:169351700T>A	ENST00000511577.1	-	13	1853	c.1606A>T	c.(1606-1608)Acg>Tcg	p.T536S	DDX60L_ENST00000260184.7_Missense_Mutation_p.T536S|DDX60L_ENST00000505890.1_Missense_Mutation_p.T536S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	536							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATGACTTTCGTAGAGATTGAT	0.363000													4	38					0	0	0.009096	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316623	39316623	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:39316623C>T	ENST00000390661.3	-	1	360	c.321G>A	c.(319-321)agG>agA	p.R107R		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	107	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCACTGGGGCCTGCAGCAGC	0.657000													4	75					0	0	0.009096	0	0
OGDH	4967	broad.mit.edu	37	7	44713410	44713410	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:44713410G>A	ENST00000222673.5	+	6	700	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Missense_Mutation_p.V235M|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.V171M|OGDH_ENST00000447398.1_Missense_Mutation_p.V231M|OGDH_ENST00000443864.2_Missense_Mutation_p.V220M|OGDH_ENST00000449767.1_Missense_Mutation_p.V216M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	220					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCATATTGGGGTGGAGTTCAT	0.507000													18	69					0	0	0.062417	0	0
NOTCH2	4853	broad.mit.edu	37	1	120459056	120459056	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:120459056T>A	ENST00000256646.2	-	34	6508	c.6289A>T	c.(6289-6291)Acc>Tcc	p.T2097S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2097					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCATTGGGGTGTGCTTCAGG	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	156					0	0	0.058154	0	0
FZD4	8322	broad.mit.edu	37	11	86663040	86663040	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:86663040C>T	ENST00000531380.1	-	2	1063	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	253					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATGATGGGGCGCTCAGGGTA	0.453000													3	24					0	0	0.115264	0	0
CLIC6	54102	broad.mit.edu	37	21	36080998	36080998	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:36080998G>T	ENST00000360731.3	+	5	1665	c.1664_splice	c.e5-1	p.R555_splice	CLIC6_ENST00000349499.2_Splice_Site_p.R537_splice			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	555						chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						ACTTTTCAAGGTATCCCAAGC	0.388000													7	38					0.00448238	0.00501367	0.047766	1	0
EIF3A	8661	broad.mit.edu	37	10	120819115	120819115	+	Splice_Site	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:120819115T>A	ENST00000369144.3	-	10	1569	c.1443_splice	c.e10+1	p.Q481_splice	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Splice_Site_p.Q447_splice	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	481	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATACCTACCTGCAAGTCGCA	0.453000													12	47					0	0	0.105934	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622070	65622070	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:65622070C>A	ENST00000327987.4	-	12	2242	c.1991G>T	c.(1990-1992)aGg>aTg	p.R664M		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	664										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACCTGCCCCTTTGGCCGAA	0.612000													5	17					0.014758	0.0158176	0.014758	1	0
BCL2	596	broad.mit.edu	37	18	60985504	60985504	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:60985504C>A	ENST00000398117.1	-	1	1857	c.396G>T	c.(394-396)acG>acT	p.T132T	BCL2_ENST00000444484.1_Silent_p.T132T|BCL2_ENST00000333681.4_Silent_p.T132T|BCL2_ENST00000589955.1_Silent_p.T132T	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	132					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CCTCCACCACCGTGGCAAAGC	0.657000			T	IGH@	"""NHL, CLL"""								5	23					0.000602214	0.000702298	0.014758	1	0
OR6C74	254783	broad.mit.edu	37	12	55641662	55641662	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:55641662G>T	ENST00000343870.4	+	1	681	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AATTAATGATGCTTCTCTCAG	0.388000													25	95					3.1745e-13	5.61694e-13	0.134883	1	0
OR2L2	26246	broad.mit.edu	37	1	248201766	248201766	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:248201766C>A	ENST00000366479.2	+	1	293	c.197C>A	c.(196-198)tCc>tAc	p.S66Y	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGTCAGCTCTCCCTCATTGAC	0.383000													126	305					4.83839e-50	9.71228e-50	0.139131	1	0
DSC3	1825	broad.mit.edu	37	18	28609555	28609555	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:28609555G>T	ENST00000434452.1	-	4	548	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	DSC3_ENST00000360428.4_Missense_Mutation_p.R132S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	132					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			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)			CTCTTGGCACGCCTGAGAACA	0.403000													19	127					2.4624e-09	3.87285e-09	0.049695	1	0
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:72129059G>C	ENST00000340726.3	-	14	1867	c.1228C>G	c.(1228-1230)Cct>Gct	p.P410A	EYA1_ENST00000388740.3_Missense_Mutation_p.P377A|EYA1_ENST00000388743.2_Missense_Mutation_p.P409A|EYA1_ENST00000303824.7_Missense_Mutation_p.P404A|EYA1_ENST00000388742.4_Missense_Mutation_p.P410A|EYA1_ENST00000419131.1_Missense_Mutation_p.P375A|EYA1_ENST00000388741.2_Missense_Mutation_p.P376A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	410					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433000													7	147					0	0	0.029380	0	0
COL19A1	1310	broad.mit.edu	37	6	70856741	70856741	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:70856741G>C	ENST00000322773.4	+	27	1955	c.1853G>C	c.(1852-1854)gGg>gCg	p.G618A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G240A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	618	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGTTCCCCAGGGGACATAGGC	0.443000													6	37					0	0	0.047766	0	0
RYR2	6262	broad.mit.edu	37	1	237754274	237754274	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:237754274C>A	ENST00000366574.2	+	31	4459	c.4142C>A	c.(4141-4143)cCc>cAc	p.P1381H	RYR2_ENST00000360064.6_Missense_Mutation_p.P1379H|RYR2_ENST00000542537.1_Missense_Mutation_p.P1365H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1381	4 X approximate repeats.|B30.2/SPRY 3.				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			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)			CAGGAAAAGCCCTCTCGTCTG	0.408000													25	65					3.28513e-13	5.80019e-13	0.091800	1	0
OR14K1	343170	broad.mit.edu	37	1	247902282	247902282	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:247902282T>A	ENST00000283225.2	+	1	366	c.366T>A	c.(364-366)gcT>gcA	p.A122A	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACCGCTATGCTGCCATCTGCT	0.567000													11	127					0	0	0.069234	0	0
LILRA1	11024	broad.mit.edu	37	19	55106734	55106734	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:55106734G>T	ENST00000453777.1	+	5	698	c.528G>T	c.(526-528)ggG>ggT	p.G176G	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Silent_p.G176G|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	176	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			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)		GTACCCATGGGTGGTCCCGGG	0.562000													8	83					0.00621372	0.00683842	0.058154	1	0
PTPRT	11122	broad.mit.edu	37	20	40980818	40980818	+	Silent	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:40980818C>G	ENST00000373198.3	-	10	1903	c.1668G>C	c.(1666-1668)ctG>ctC	p.L556L	PTPRT_ENST00000373193.3_Silent_p.L556L|PTPRT_ENST00000373187.1_Silent_p.L556L|PTPRT_ENST00000356100.2_Silent_p.L556L|PTPRT_ENST00000373190.1_Silent_p.L556L|PTPRT_ENST00000373201.1_Silent_p.L556L|PTPRT_ENST00000373184.1_Silent_p.L556L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	556	Fibronectin type-III 3.				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			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)				TCCCTGGGTACAGACCCACAA	0.562000													15	83					0	0	0.132662	0	0
TNC	3371	broad.mit.edu	37	9	117826313	117826313	+	Silent	SNP	G	G	T	rs139061925		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:117826313G>T	ENST00000350763.4	-	12	3933	c.3522C>A	c.(3520-3522)gcC>gcA	p.A1174A	TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Silent_p.A1174A|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Silent_p.A1174A|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1174	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCCACCTCGGCCACCACGA	0.502000													79	258					2.43516e-34	4.85259e-34	0.139131	1	0
ALX1	8092	broad.mit.edu	37	12	85695047	85695047	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:85695047G>C	ENST00000316824.3	+	4	930	c.775G>C	c.(775-777)Gat>Cat	p.D259H		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	259					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.D259H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCTCGGACAGATTCCAGTTA	0.493000													8	131					0	0	0.038147	0	0
SULF1	23213	broad.mit.edu	37	8	70488290	70488290	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:70488290G>T	ENST00000260128.4	+	6	975	c.258G>T	c.(256-258)atG>atT	p.M86I	SULF1_ENST00000458141.2_Missense_Mutation_p.M86I|SULF1_ENST00000402687.4_Missense_Mutation_p.M86I|SULF1_ENST00000419716.3_Missense_Mutation_p.M86I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	86					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTACACCCATGTGCTGCCCGT	0.532000													5	46					0.000602214	0.000702298	0.014758	1	0
SPAG17	200162	broad.mit.edu	37	1	118558770	118558770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:118558770T>A	ENST00000336338.5	-	29	4170	c.4105A>T	c.(4105-4107)Aag>Tag	p.K1369*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1369						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTCACCCTTATGGGCCATT	0.398000													7	91					0	0	0.038147	0	0
SMTNL2	342527	broad.mit.edu	37	17	4500545	4500545	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:4500545G>T	ENST00000389313.4	+	7	1253	c.1186G>T	c.(1186-1188)Gat>Tat	p.D396Y	SMTNL2_ENST00000338859.4_Missense_Mutation_p.D252Y	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	396	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTTCTTCCCCGATGCCTTTGA	0.602000													9	25					3.86212e-05	4.90836e-05	0.069234	1	0
ASAP1	50807	broad.mit.edu	37	8	131136347	131136347	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:131136347C>G	ENST00000357668.1	-	17	1546	c.1519G>C	c.(1519-1521)Gcc>Ccc	p.A507P	ASAP1_ENST00000518721.1_Missense_Mutation_p.A507P			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	507	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACATTCTTGGCCAGCTGTAAC	0.328000													3	33					0	0	0.115264	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284917	52284917	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:52284917G>C	ENST00000301190.6	+	5	1414	c.1187G>C	c.(1186-1188)aGg>aCg	p.R396T	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000538991.1_Intron	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACCAGCCCCAGGCCCCAAGTC	0.617000													12	36					0	0	0.105934	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701760	103701760	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:103701760G>T	ENST00000245312.3	-	5	1394	c.798C>A	c.(796-798)aaC>aaA	p.N266K		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	266					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATAGCTGCGTGTTCTGCATCC	0.458000													15	102					1.99824e-07	2.88322e-07	0.033300	1	0
UTP23	84294	broad.mit.edu	37	8	117783699	117783699	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:117783699A>G	ENST00000309822.2	+	3	469	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	123					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AAATAGGATCAGAATTTGTCT	0.308000													12	53					0	0	0.105934	0	0
KALRN	8997	broad.mit.edu	37	3	124438261	124438261	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:124438261C>A	ENST00000360013.3	+	60	9032	c.8905C>A	c.(8905-8907)Cgg>Agg	p.R2969R	KALRN_ENST00000291478.4_Silent_p.R1272R|KALRN_ENST00000428018.2_Silent_p.R1240R	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2968					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAATGATGTGCGGCCTATTCC	0.537000													11	61					0.000978159	0.00113428	0.080935	1	0
SOGA1	140710	broad.mit.edu	37	20	35422925	35422925	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:35422925C>A	ENST00000237536.4	-	14	3901	c.3560G>T	c.(3559-3561)cGg>cTg	p.R1187L	SOGA1_ENST00000279034.5_Missense_Mutation_p.R949L|SOGA1_ENST00000357779.3_Missense_Mutation_p.R949L|SOGA1_ENST00000456801.2_Missense_Mutation_p.R790L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	949								p.R949Q(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CTTCTTGCCCCGGGCATCTCC	0.547000													12	73					1.5842e-08	2.42203e-08	0.105934	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944788	43944788	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:43944788A>T	ENST00000389420.3	-	2	376	c.377T>A	c.(376-378)cTg>cAg	p.L126Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L126Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	126						proteinaceous extracellular matrix	zinc ion binding			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)		GCAGTGGCGCAGGTCCGAGGG	0.672000													7	27					0	0	0.029380	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478176	14478176	+	RNA	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:14478176A>G	ENST00000581457.1	-	0	1732					NR_024076.1																						TCTATACTATAGACCCATCCT	0.453000													7	38					0	0	0.038147	0	0
ABCA13	154664	broad.mit.edu	37	7	48431671	48431671	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:48431671G>A	ENST00000435803.1	+	38	11832	c.11808G>A	c.(11806-11808)ttG>ttA	p.L3936L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3936	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAACATTTGCTGCTCTTTG	0.527000													24	325					0	0	0.134883	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282821	47282821	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:47282821T>A	ENST00000271153.4	+	9	1208	c.1172T>A	c.(1171-1173)gTc>gAc	p.V391D	CYP4B1_ENST00000452782.2_Missense_Mutation_p.V229D|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V377D|CYP4B1_ENST00000371923.4_Missense_Mutation_p.V392D			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	391					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					AGCAAGCCTGTCACCTTTGTG	0.572000													7	36					0	0	0.038147	0	0
ITM2A	9452	broad.mit.edu	37	X	78618573	78618573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:78618573C>A	ENST00000434584.2	-	2	511	c.175G>T	c.(175-177)Gga>Tga	p.G59*	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Nonsense_Mutation_p.G103*	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	103						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGCTCTCCTCCACGAAGGGAA	0.443000													7	17					8.12818e-05	0.00010111	0.029380	1	0
PCDH18	54510	broad.mit.edu	37	4	138452072	138452072	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:138452072G>T	ENST00000344876.4	-	1	1557	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PCDH18_ENST00000507846.1_Missense_Mutation_p.L171M|PCDH18_ENST00000412923.2_Missense_Mutation_p.L391M|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	391	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L391L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTCCATTCAGCCCAGAATCC	0.363000													6	90					3.59834e-05	4.59445e-05	0.021553	1	0
KLB	152831	broad.mit.edu	37	4	39436088	39436088	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:39436088G>T	ENST00000257408.4	+	2	1181	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	362	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGAGAAGCATGAGATGAGAGG	0.448000													10	82					2.17888e-05	2.83047e-05	0.058154	1	0
GABRG3	2567	broad.mit.edu	37	15	27572006	27572006	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:27572006T>A	ENST00000333743.6	+	4	575	c.321T>A	c.(319-321)ctT>ctA	p.L107L	GABRG3_ENST00000555083.1_Silent_p.L107L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	107					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATAGTCGCCTTCGATTCAACA	0.418000													27	119					0	0	0.045705	0	0
HCN1	348980	broad.mit.edu	37	5	45262890	45262890	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:45262890C>A	ENST00000303230.4	-	8	1863	c.1806G>T	c.(1804-1806)ctG>ctT	p.L602L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	602						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAACTTTTGCAGAAGAATTG	0.433000													5	71					0.00116845	0.0013398	0.021553	1	0
PSG1	5669	broad.mit.edu	37	19	43376024	43376024	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:43376024G>T	ENST00000244296.2	-	3	741	c.604C>A	c.(604-606)Ctc>Atc	p.L202I	PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.L202I|PSG1_ENST00000436291.2_Missense_Mutation_p.L202I|PSG1_ENST00000312439.6_Missense_Mutation_p.L202I|PSG1_ENST00000403380.3_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AATAGAAAGAGGGTCCTGTTG	0.522000													97	585					5.84261e-33	1.15307e-32	0.139131	1	0
MAP1A	4130	broad.mit.edu	37	15	43814040	43814040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:43814040G>A	ENST00000382031.1	+	5	1114	c.1083G>A	c.(1081-1083)tgG>tgA	p.W361*	MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W123*|MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W123*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	123	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACAGCGACTGGGTGAAGAACC	0.552000													6	31					0	0	0.021553	0	0
MROH7	374977	broad.mit.edu	37	1	55148346	55148346	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:55148346G>C	ENST00000414150.2	+	14	2677	c.2399G>C	c.(2398-2400)tGg>tCg	p.W800S	MROH7_ENST00000421030.2_Missense_Mutation_p.W800S|MROH7_ENST00000395690.2_Missense_Mutation_p.W800S|MROH7_ENST00000454855.2_Missense_Mutation_p.W318S|MROH7_ENST00000545244.1_Missense_Mutation_p.W368S|MROH7_ENST00000409996.1_Missense_Mutation_p.W368S|MROH7_ENST00000339553.5_Missense_Mutation_p.W800S					maestro heat-like repeat family member 7																		GCAGAGATGTGGAGGCAGCTG	0.592000													9	107					0	0	0.069234	0	0
CCDC67	159989	broad.mit.edu	37	11	93127784	93127784	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:93127784G>C	ENST00000298050.3	+	10	1301	c.1201G>C	c.(1201-1203)Gaa>Caa	p.E401Q	CCDC67_ENST00000525646.1_Missense_Mutation_p.E143Q	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	401										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GTTAAAAATGGAATTAGAAAT	0.383000													20	58					0	0	0.055883	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	113					0	0	0.009096	0	0
STON2	85439	broad.mit.edu	37	14	81837478	81837478	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:81837478C>A	ENST00000555447.1	-	5	837	c.425G>T	c.(424-426)gGg>gTg	p.G142V	STON2_ENST00000267540.2_Missense_Mutation_p.G142V	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	142					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGGGCATCTCCCCAGGGAGTC	0.488000													7	105					1.06961e-07	1.57941e-07	0.038147	1	0
ASTN2	23245	broad.mit.edu	37	9	119976722	119976722	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:119976722G>T	ENST00000313400.4	-	3	1030	c.930C>A	c.(928-930)cgC>cgA	p.R310R	ASTN2_ENST00000361209.2_Silent_p.R310R|ASTN2_ENST00000373996.3_Silent_p.R310R|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	310						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTCGTCCTCGCGGGAGACAT	0.577000													29	117					8.58068e-18	1.60472e-17	0.125774	1	0
EPHA7	2045	broad.mit.edu	37	6	93979224	93979224	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:93979224A>G	ENST00000369303.4	-	7	1788	c.1604T>C	c.(1603-1605)cTa>cCa	p.L535P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	535	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGCTTCCTCTAGTGTAGCAAC	0.348000													15	92					0	0	0.146539	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732134	8732134	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:8732134C>A	ENST00000311434.9	-	11	1302	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	355					platelet activation	cytosol											CTGCCGGGTGCAGGCAGCTCA	0.677000													4	27					5.9392e-07	8.37815e-07	0.021553	1	0
TRAK1	22906	broad.mit.edu	37	3	42229535	42229535	+	Splice_Site	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:42229535A>T	ENST00000327628.5	+	5	880		c.e5-1		TRAK1_ENST00000341421.3_Splice_Site|TRAK1_ENST00000487159.1_Splice_Site|TRAK1_ENST00000396175.1_Splice_Site|TRAK1_ENST00000449246.1_Splice_Site	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGCTTGTGCAGGTGTCTCAG	0.527000													31	123					0	0	0.064281	0	0
KLKP1	606293	broad.mit.edu	37	19	51391402	51391402	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:51391402C>A	ENST00000600104.1	-	0	515																											GGGTTGGGAGCAAAGTATGTG	0.542000													3	14					0.00024832	0.00029937	0.009096	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187693380	187693380	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:187693380T>G	ENST00000295131.2	-	9	1272	c.1233A>C	c.(1231-1233)agA>agC	p.R411S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	411					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAATGATGTCTCTGTTTGAAA	0.348000													7	30					0	0	0.038147	0	0
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:22382673C>A	ENST00000328795.4	+	1	292	c.201C>A	c.(199-201)gcC>gcA	p.A67A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCAACTTGGCCTTCCTGGATG	0.483000													9	266					1.85244e-09	2.93035e-09	0.083992	1	0
NAV3	89795	broad.mit.edu	37	12	78401137	78401137	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:78401137C>G	ENST00000397909.2	+	8	1992	c.1819C>G	c.(1819-1821)Cag>Gag	p.Q607E	NAV3_ENST00000536525.2_Missense_Mutation_p.Q607E|NAV3_ENST00000228327.6_Missense_Mutation_p.Q607E|NAV3_ENST00000266692.7_Missense_Mutation_p.Q607E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	607						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGCAGTGGGCAGAGCACAGG	0.537000										HNSCC(70;0.22)			75	212					0	0	0.139131	0	0
KAZN	23254	broad.mit.edu	37	1	15420702	15420702	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:15420702C>G	ENST00000376030.2	+	9	1543	c.1249C>G	c.(1249-1251)Cgg>Ggg	p.R417G		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	417					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAGCCCCACGCGGCAGAGCCT	0.687000													4	23					0	0	0.014758	0	0
STON2	85439	broad.mit.edu	37	14	81743441	81743441	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:81743441C>A	ENST00000555447.1	-	6	2626	c.2214G>T	c.(2212-2214)tgG>tgT	p.W738C	STON2_ENST00000267540.2_Missense_Mutation_p.W738C	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	738	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGTTTTTCACCCACTCACTGG	0.542000													14	87					2.32078e-09	3.65713e-09	0.132662	1	0
KCTD9	54793	broad.mit.edu	37	8	25292931	25292931	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:25292931T>C	ENST00000221200.4	-	9	981	c.761A>G	c.(760-762)aAt>aGt	p.N254S		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		ACAGCAAAGATTTGCATGTGC	0.388000													7	51					0	0	0.029380	0	0
SPG11	80208	broad.mit.edu	37	15	44903124	44903124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:44903124G>A	ENST00000261866.7	-	18	3221	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q1069*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1069*|SPG11_ENST00000558319.1_Nonsense_Mutation_p.Q1069*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1069					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACACTGGCCTGATTGGTGGGA	0.453000													6	33					0	0	0.021553	0	0
ADAM2	2515	broad.mit.edu	37	8	39618754	39618754	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:39618754C>A	ENST00000265708.4	-	15	1657	c.1554G>T	c.(1552-1554)aaG>aaT	p.K518N	ADAM2_ENST00000347580.4_Missense_Mutation_p.K499N|ADAM2_ENST00000521880.1_Missense_Mutation_p.K518N|ADAM2_ENST00000379853.2_Missense_Mutation_p.K392N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	518	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATACATCAGTCTTTGAATTAA	0.313000													6	52					0.000157383	0.000192853	0.038147	1	0
TAAR9	134860	broad.mit.edu	37	6	132860208	132860208	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:132860208G>T	ENST00000434551.1	+	0	780					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CCAAAACCTTGGGAATTGCTA	0.423000													7	49					0.00198382	0.00225272	0.029380	1	0
CARD11	84433	broad.mit.edu	37	7	2983857	2983857	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:2983857G>C	ENST00000396946.4	-	5	1076	c.673C>G	c.(673-675)Ctc>Gtc	p.L225V	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	225					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCGAGTTGGAGGTCTCGGCTC	0.577000			Mis		DLBCL								9	53					0	0	0.058154	0	0
POTEE	445582	broad.mit.edu	37	2	131976004	131976004	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:131976004C>T	ENST00000356920.5	+	1	123	c.29C>T	c.(28-30)gCt>gTt	p.A10V	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.A10V|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	10							ATP binding										TCCATGCCGGCTGCCTCTTCT	0.542000													13	34					0	0	0.146539	0	0
AOC1	26	broad.mit.edu	37	7	150558060	150558060	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:150558060C>A	ENST00000493429.1	+	7	2603	c.2019C>A	c.(2017-2019)ttC>ttA	p.F673L	AOC1_ENST00000467291.1_Missense_Mutation_p.F673L|AOC1_ENST00000360937.4_Missense_Mutation_p.F673L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.F692L					amine oxidase, copper containing 1																		CGGTGGGCTTCCTGCACATCC	0.622000													9	45					7.48243e-07	1.0519e-06	0.058154	1	0
ADAM29	11086	broad.mit.edu	37	4	175898174	175898174	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:175898174G>T	ENST00000359240.3	+	5	2168	c.1498G>T	c.(1498-1500)Gac>Tac	p.D500Y	ADAM29_ENST00000445694.1_Missense_Mutation_p.D500Y|ADAM29_ENST00000404450.4_Missense_Mutation_p.D500Y|ADAM29_ENST00000514159.1_Missense_Mutation_p.D500Y	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	500	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GAGCTGTCATGACCGCAATGA	0.463000													29	203					1.74807e-11	2.92294e-11	0.045705	1	0
IL1RL1	9173	broad.mit.edu	37	2	102956578	102956578	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:102956578G>A	ENST00000311734.2	+	4	632	c.293G>A	c.(292-294)gGa>gAa	p.G98E	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G98E|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000393393.3_Missense_Mutation_p.G98E|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G98E			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	98	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AATAGGACTGGATATGCGAAT	0.294000													3	62					0	0	0.115264	0	0
AGPAT4	56895	broad.mit.edu	37	6	161557666	161557666	+	Splice_Site	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:161557666G>C	ENST00000320285.4	-	9	1255	c.1042_splice	c.e9-1	p.A348_splice	AGPAT4_ENST00000457520.2_Splice_Site_p.A186_splice|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	348					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCCCACGGAGGCTGCAGAGAC	0.537000													3	56					0	0	0.014758	0	0
CYP4F12	66002	broad.mit.edu	37	19	15789216	15789216	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:15789216G>T	ENST00000550308.1	+	3	723		c.e3+1		CYP4F12_ENST00000324632.9_Splice_Site	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AATGCCTCAGGTACCCATGCA	0.557000													6	53					0.00116845	0.0013398	0.021553	1	0
PSG2	5670	broad.mit.edu	37	19	43579524	43579524	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:43579524C>G	ENST00000406487.1	-	3	789	c.691G>C	c.(691-693)Gtc>Ctc	p.V231L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	231	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTCAGGGTGACTGGGTCACTG	0.527000													54	455					0	0	0.139131	0	0
FER1L6	654463	broad.mit.edu	37	8	125015438	125015438	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:125015438C>A	ENST00000522917.1	+	13	1757	c.1551C>A	c.(1549-1551)tcC>tcA	p.S517S	FER1L6_ENST00000399018.1_Silent_p.S517S|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	517						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGGAGGATCCCATCATGGGA	0.498000													16	332					5.01169e-05	6.35951e-05	0.033300	1	0
OR7G1	125962	broad.mit.edu	37	19	9225524	9225524	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:9225524C>A	ENST00000541538.1	-	1	915	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	OR7G1_ENST00000293614.1_Splice_Site_p.G306_splice	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AACAGCCTACCAATAAGTTTC	0.418000													35	112					1.57351e-24	3.03252e-24	0.064281	1	0
ASRGL1	80150	broad.mit.edu	37	11	62123879	62123879	+	Silent	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:62123879A>G	ENST00000415229.2	+	3	488	c.273A>G	c.(271-273)gcA>gcG	p.A91A	ASRGL1_ENST00000301776.5_Silent_p.A91A|ASRGL1_ENST00000535727.1_Intron	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	91					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTGCAGGAGCAGTGTCCGCAG	0.418000													9	40					0	0	0.047766	0	0
NRXN2	9379	broad.mit.edu	37	11	64453143	64453143	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:64453143A>G	ENST00000265459.6	-	6	1588	c.1127T>C	c.(1126-1128)gTc>gCc	p.V376A	NRXN2_ENST00000377559.3_Missense_Mutation_p.V352A|NRXN2_ENST00000409571.1_Missense_Mutation_p.V376A|NRXN2_ENST00000377551.1_Missense_Mutation_p.V376A	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	376	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGTGACCCGGACGTCGTGCCA	0.612000													43	179					0	0	0.139131	0	0
HMGCS1	3157	broad.mit.edu	37	5	43299016	43299016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:43299016C>A	ENST00000325110.6	-	3	258	c.52G>T	c.(52-54)Gga>Tga	p.G18*	HMGCS1_ENST00000433297.2_Nonsense_Mutation_p.G18*	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	18					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						GCAACAATTCCCACATCTTTT	0.383000													22	65					3.8784e-16	7.204e-16	0.062417	1	0
SNX14	57231	broad.mit.edu	37	6	86256841	86256841	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:86256841C>T	ENST00000314673.3	-	12	1273	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	SNX14_ENST00000346348.3_Missense_Mutation_p.C322Y|SNX14_ENST00000505648.1_Missense_Mutation_p.C314Y|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.C366Y|SNX14_ENST00000513865.1_Missense_Mutation_p.C366Y	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	366	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACAGTCAAACAAAACTGCAA	0.343000													5	30					0	0	0.014758	0	0
OR6N1	128372	broad.mit.edu	37	1	158736113	158736113	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:158736113G>C	ENST00000335094.2	-	1	379	c.360C>G	c.(358-360)taC>taG	p.Y120*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AATACCTATCGTAGGCCATAG	0.512000													26	87					0	0	0.083992	0	0
KRT72	140807	broad.mit.edu	37	12	52986720	52986720	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:52986720T>A	ENST00000293745.2	-	3	743	c.658A>T	c.(658-660)Aac>Tac	p.N220Y	KRT72_ENST00000398066.3_Missense_Mutation_p.N32Y|KRT72_ENST00000354310.4_Missense_Mutation_p.N220Y|KRT72_ENST00000537672.2_Missense_Mutation_p.N220Y	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	220	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GTGCGTCTGTTAATCTCCACC	0.512000													15	101					0	0	0.038395	0	0
LAMA2	3908	broad.mit.edu	37	6	129468152	129468152	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:129468152T>A	ENST00000421865.2	+	6	917	c.868T>A	c.(868-870)Tat>Aat	p.Y290N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	290	Laminin EGF-like 1.				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			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)		GTGCATCTGCTATGGTCATGC	0.413000													21	96					0	0	0.083992	0	0
GRM1	2911	broad.mit.edu	37	6	146720363	146720363	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:146720363C>A	ENST00000392299.2	+	8	2658	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	GRM1_ENST00000361719.2_Missense_Mutation_p.P730T|GRM1_ENST00000355289.4_Missense_Mutation_p.P730T|GRM1_ENST00000507907.1_Missense_Mutation_p.P730T|GRM1_ENST00000492807.2_Missense_Mutation_p.P730T|GRM1_ENST00000282753.1_Missense_Mutation_p.P730T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	730					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATGGAACCCCCTATGCCCAT	0.512000													14	206					7.93312e-07	1.11335e-06	0.119110	1	0
TG	7038	broad.mit.edu	37	8	133984889	133984889	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:133984889G>A	ENST00000220616.4	+	34	6142	c.6102G>A	c.(6100-6102)atG>atA	p.M2034I	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.M188I|TG_ENST00000377869.1_Missense_Mutation_p.M1977I|TG_ENST00000542445.1_Missense_Mutation_p.M404I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2034					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAATTCAGATGTGCAGTGAGG	0.478000													33	169					0	0	0.054565	0	0
RIT2	6014	broad.mit.edu	37	18	40503707	40503707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:40503707C>A	ENST00000589109.1	-	4	427	c.256G>T	c.(256-258)Gag>Tag	p.E86*	RIT2_ENST00000282028.4_Nonsense_Mutation_p.E86*|RIT2_ENST00000590910.1_Silent_p.G106G|RIT2_ENST00000326695.5_Nonsense_Mutation_p.E86*	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	86					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTACTGCTCCCGCATGGCT	0.398000													11	225					1.08611e-07	1.58947e-07	0.080935	1	0
EFCAB6	64800	broad.mit.edu	37	22	43926768	43926768	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:43926768C>A	ENST00000262726.7	-	31	4563	c.4310G>T	c.(4309-4311)aGg>aTg	p.R1437M	EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1285M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1437	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCGCATTGGCCTCCAGCAGTG	0.557000													8	46					0.00621372	0.00683842	0.058154	1	0
SCG2	7857	broad.mit.edu	37	2	224462916	224462916	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:224462916G>A	ENST00000305409.2	-	2	1317	c.1085C>T	c.(1084-1086)cCa>cTa	p.P362L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	362					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TAAGTCTTCTGGGGGTATCTG	0.463000													35	147					0	0	0.059317	0	0
LYAR	55646	broad.mit.edu	37	4	4283554	4283554	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:4283554C>A	ENST00000343470.4	-	4	433	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C	LYAR_ENST00000452476.1_Missense_Mutation_p.G65C	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	65						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGGTTTTACCTTCATAGCCT	0.438000													6	157					0.000274275	0.000326821	0.047766	1	0
NDUFA8	4702	broad.mit.edu	37	9	124914641	124914641	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:124914641C>T	ENST00000537618.1	-	2	207	c.98G>A	c.(97-99)gGa>gAa	p.G33E	NDUFA8_ENST00000373768.3_Missense_Mutation_p.G33E			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	33	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	ACATTGAGCTCCATAGTGATG	0.478000													16	59					0	0	0.038395	0	0
HEY2	23493	broad.mit.edu	37	6	126080723	126080723	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:126080723C>A	ENST00000368364.3	+	5	986	c.789C>A	c.(787-789)acC>acA	p.T263T	HEY2_ENST00000368365.1_Silent_p.T217T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	263	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCTCTGCCACCGTCCACGCCG	0.672000													16	98					5.26018e-13	9.18852e-13	0.062417	1	0
FSTL5	56884	broad.mit.edu	37	4	162307360	162307360	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:162307360C>A	ENST00000306100.5	-	16	2519	c.2083G>T	c.(2083-2085)Ggc>Tgc	p.G695C	FSTL5_ENST00000379164.4_Missense_Mutation_p.G694C|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.G685C|FSTL5_ENST00000536695.1_Missense_Mutation_p.G694C	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	695						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATGGAGTGCCCGTCACATCA	0.478000													15	71					1.37285e-15	2.53854e-15	0.146539	1	0
LGALS14	56891	broad.mit.edu	37	19	40197260	40197260	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:40197260C>A	ENST00000392052.3	+	2	262	c.39C>A	c.(37-39)tcC>tcA	p.S13S	LGALS14_ENST00000360675.3_Silent_p.S42S	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	13	Galectin.			SL -> PC (in Ref. 1; AAP97241).		nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGCCTGTTTCCTTGCCTGTTG	0.517000													48	203					7.36392e-32	1.44983e-31	0.139131	1	0
GBX2	2637	broad.mit.edu	37	2	237074746	237074746	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:237074746G>T	ENST00000306318.4	-	2	1255	c.858C>A	c.(856-858)ctC>ctA	p.L286L	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCACCTCGCTGAGTTTGAGGG	0.587000													19	46					1.96292e-10	3.21669e-10	0.055883	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231353	118231353	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:118231353C>A	ENST00000369230.3	+	10	1280	c.1134C>A	c.(1132-1134)ggC>ggA	p.G378G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	378	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity	p.G378G(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)		TTCGTGTAGGCGGGGCAGTTA	0.473000													6	207					1.10513e-12	1.91821e-12	0.069288	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47122378	47122378	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:47122378C>A	ENST00000290341.3	+	12	1680	c.1346C>A	c.(1345-1347)tCc>tAc	p.S449Y	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.S310Y	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	449	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACACCTGACTCCAAAGTTCGT	0.478000													34	134					2.29764e-31	4.51283e-31	0.064281	1	0
MACF1	23499	broad.mit.edu	37	1	39812816	39812816	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:39812816G>T	ENST00000564288.1	+	41	11526	c.10749G>T	c.(10747-10749)caG>caT	p.Q3583H	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.Q3588H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q3620H|MACF1_ENST00000289893.4_Missense_Mutation_p.Q2023H|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3588					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTGGAACAGACTGCCGCTC	0.532000													20	108					1.50039e-11	2.51392e-11	0.062417	1	0
LUM	4060	broad.mit.edu	37	12	91498045	91498045	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:91498045T>A	ENST00000266718.4	-	3	1368	c.914A>T	c.(913-915)aAg>aTg	p.K305M	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	305					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ATGCTTGATCTTGGAGTAGGA	0.388000													10	89					0	0	0.069234	0	0
GRIK1	2897	broad.mit.edu	37	21	30959845	30959845	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:30959845G>T	ENST00000399914.1	-	11	2110	c.1589C>A	c.(1588-1590)tCc>tAc	p.S530Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.S545Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.S545Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.S547Y|GRIK1_ENST00000389124.2_Missense_Mutation_p.S545Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.S530Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.S547Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.S530Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.S545Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	545					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GAAGGGTTTGGAGAAGTCAAT	0.502000													17	50					3.41278e-10	5.52642e-10	0.033300	1	0
FNDC1	84624	broad.mit.edu	37	6	159642652	159642652	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:159642652C>A	ENST00000297267.9	+	6	890	c.690C>A	c.(688-690)gtC>gtA	p.V230V	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Silent_p.V230V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	230	Fibronectin type-III 2.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTATGTGGTCTCCCTGCAGT	0.547000													7	86					1.06961e-07	1.57941e-07	0.038147	1	0
MAB21L3	126868	broad.mit.edu	37	1	116666737	116666737	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:116666737C>A	ENST00000369500.3	+	4	505	c.240C>A	c.(238-240)gcC>gcA	p.A80A	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	80										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AAGGCCTGGCCGGGTACAGGG	0.592000													16	56					6.94344e-10	1.11122e-09	0.038395	1	0
DSE	29940	broad.mit.edu	37	6	116720666	116720666	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:116720666T>C	ENST00000331677.3	+	3	697	c.253T>C	c.(253-255)Tac>Cac	p.Y85H	DSE_ENST00000452085.3_Missense_Mutation_p.Y85H|DSE_ENST00000537543.1_Missense_Mutation_p.Y104H|DSE_ENST00000359564.2_Missense_Mutation_p.Y85H|DSE_ENST00000540275.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	85					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCCTTGGAATACCTCCCTCC	0.577000													8	59					0	0	0.080935	0	0
TMEM239	100288797	broad.mit.edu	37	20	2795885	2795885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:2795885C>A	ENST00000554164.1	+	2	138	c.55C>A	c.(55-57)Cct>Act	p.P19T	C20orf141_ENST00000380589.4_Missense_Mutation_p.P19T|C20orf141_ENST00000603872.1_Missense_Mutation_p.P19T|TMEM239_ENST00000380593.4_Missense_Mutation_p.P19T			Q8WW34	Q8WW34_HUMAN	transmembrane protein 239	0																	GATCCCAGTTCCTCCAAGGGG	0.617000													9	68					3.86212e-05	4.90836e-05	0.069234	1	0
ZNF133	7692	broad.mit.edu	37	20	18296999	18296999	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:18296999G>A	ENST00000377671.3	+	7	2060	c.1501G>A	c.(1501-1503)Ggc>Agc	p.G501S	ZNF133_ENST00000401790.1_Missense_Mutation_p.G502S|ZNF133_ENST00000396026.3_Missense_Mutation_p.G505S|ZNF133_ENST00000538547.1_Missense_Mutation_p.G407S|ZNF133_ENST00000316358.4_Missense_Mutation_p.G502S|ZNF133_ENST00000402618.2_Missense_Mutation_p.G439S|ZNF133_ENST00000535822.1_Missense_Mutation_p.G407S|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	502						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GTGCGGGCGAGGCTTCAGCCA	0.622000													4	98					0	0	0.125774	0	0
RGL1	23179	broad.mit.edu	37	1	183874048	183874048	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:183874048C>T	ENST00000304685.3	+	14	1981	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	RGL1_ENST00000539189.1_Missense_Mutation_p.P443L|RGL1_ENST00000360851.3_Missense_Mutation_p.P472L|RGL1_ENST00000367531.1_Missense_Mutation_p.P507L|RGL1_ENST00000536277.1_Missense_Mutation_p.P470L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	472					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGCATGACCCCAGACCAAAAG	0.458000													23	121					0	0	0.125774	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090462	238090462	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:238090462C>A	ENST00000450451.1	+	0	1968					NR_027247.2																						CCTGCCCGAACCCCAAGGCCA	0.577000													39	73					5.59293e-11	9.29513e-11	0.092188	1	0
PSG2	5670	broad.mit.edu	37	19	43576107	43576107	+	Splice_Site	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:43576107C>T	ENST00000406487.1	-	4	808		c.e4-1			NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCTGGACCATCTGGAGCAAAG	0.507000													6	224					0	0	0.047766	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491375	74491375	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:74491375C>A	ENST00000394019.2	-	10	1011	c.614G>T	c.(613-615)cGg>cTg	p.R205L	SLC4A5_ENST00000377632.1_Missense_Mutation_p.R205L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R205L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R141L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R205L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R205L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R141L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R205L|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	205						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GACCCTCTCCCGGAGCTCTGG	0.552000													9	29					0.000274275	0.000326821	0.047766	1	0
ARPP21	10777	broad.mit.edu	37	3	35725261	35725261	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:35725261G>T	ENST00000187397.4	+	5	671	c.215G>T	c.(214-216)tGt>tTt	p.C72F	ARPP21_ENST00000427542.1_Missense_Mutation_p.C72F|ARPP21_ENST00000438071.1_Missense_Mutation_p.C72F|ARPP21_ENST00000444190.1_Missense_Mutation_p.C72F|ARPP21_ENST00000396481.2_Missense_Mutation_p.C72F|ARPP21_ENST00000436702.1_Missense_Mutation_p.C72F|ARPP21_ENST00000337271.5_Missense_Mutation_p.C72F|ARPP21_ENST00000417925.1_Missense_Mutation_p.C72F|ARPP21_ENST00000458225.1_Missense_Mutation_p.C72F|ARPP21_ENST00000432682.1_Missense_Mutation_p.C72F|ARPP21_ENST00000441454.1_Missense_Mutation_p.C72F|ARPP21_ENST00000412048.1_Missense_Mutation_p.C72F|ARPP21_ENST00000474696.1_Missense_Mutation_p.C72F|ARPP21_ENST00000396482.2_Missense_Mutation_p.C72F|ARPP21_ENST00000428373.1_Missense_Mutation_p.C72F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	72						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTGCTGTCTGTGAGGAATCT	0.458000													10	55					3.07112e-06	4.18141e-06	0.080935	1	0
CDH12	1010	broad.mit.edu	37	5	21817109	21817109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:21817109A>T	ENST00000382254.1	-	9	2033	c.947T>A	c.(946-948)tTg>tAg	p.L316*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.L316*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.L276*|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	316	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GATGTCAAACAAATTTCCCCC	0.358000										HNSCC(59;0.17)			32	137					0	0	0.086207	0	0
OR2S2	56656	broad.mit.edu	37	9	35957729	35957729	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:35957729G>T	ENST00000341959.2	-	1	422	c.367C>A	c.(367-369)Cgc>Agc	p.R123S		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	123			R -> H (in dbSNP:rs2233563).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACATAGCGATCAAATGCC	0.562000													12	54					5.50884e-06	7.35407e-06	0.093190	1	0
OR6N1	128372	broad.mit.edu	37	1	158735699	158735699	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:158735699C>A	ENST00000335094.2	-	1	793	c.774G>T	c.(772-774)atG>atT	p.M258I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GCTGCACATACATGGAAAGGA	0.537000													97	598					2.83873e-70	5.71224e-70	0.139131	1	0
DPF1	8193	broad.mit.edu	37	19	38709593	38709593	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:38709593T>A	ENST00000416611.1	-	4	530	c.407A>T	c.(406-408)gAg>gTg	p.E136V	DPF1_ENST00000355526.4_Missense_Mutation_p.E162V|DPF1_ENST00000414789.1_Missense_Mutation_p.E80V|DPF1_ENST00000456296.1_Missense_Mutation_p.E136V|DPF1_ENST00000412732.1_Missense_Mutation_p.E80V|DPF1_ENST00000420980.2_Missense_Mutation_p.E162V			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	162					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AATGGTCTCCTCCTCCTTCAG	0.647000													5	37					0	0	0.029380	0	0
AMPD1	270	broad.mit.edu	37	1	115220063	115220063	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:115220063G>A	ENST00000369538.3	-	9	1431	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S	AMPD1_ENST00000520113.2_Missense_Mutation_p.P466S|AMPD1_ENST00000353928.6_Missense_Mutation_p.P433S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	433					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CACTCATCAGGACTGCGGCCA	0.567000													7	28					0	0	0.038147	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559256	129559256	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:129559256C>A	ENST00000422113.2	-	9	2790	c.2464G>T	c.(2464-2466)Gtc>Ttc	p.V822F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V360F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	822						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTCACTGACATTGTTTTCC	0.512000													26	96					2.50493e-22	4.81627e-22	0.099896	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106579321	106579321	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:106579321C>A	ENST00000526355.1	-	7	2376	c.1908G>T	c.(1906-1908)ctG>ctT	p.L636L	GUCY1A2_ENST00000347596.2_Silent_p.L657L|GUCY1A2_ENST00000282249.2_Silent_p.L667L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	636	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TATTTCCAAACAGGCAATAAC	0.493000													6	41					8.12818e-05	0.00010111	0.029380	1	0
TET3	200424	broad.mit.edu	37	2	74274579	74274579	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:74274579C>T	ENST00000409262.3	+	1	1130	c.1130C>T	c.(1129-1131)cCc>cTc	p.P377L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	377							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGAGGCTCCCACGCCATCC	0.672000													4	18					0	0	0.009096	0	0
GDAP1	54332	broad.mit.edu	37	8	75276336	75276336	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:75276336G>C	ENST00000220822.7	+	6	891	c.811G>C	c.(811-813)Gga>Cga	p.G271R	GDAP1_ENST00000434412.2_Missense_Mutation_p.G203R|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	271	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CTGGGGAAACGGAAAGCGACC	0.453000													12	83					0	0	0.146539	0	0
KLHL24	54800	broad.mit.edu	37	3	183396891	183396891	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:183396891T>A	ENST00000454652.1	+	9	2006	c.1620T>A	c.(1618-1620)tcT>tcA	p.S540S	KLHL24_ENST00000242810.6_Silent_p.S540S			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	540						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GTGGTATGTCTGTGTGTAATG	0.343000													4	49					0	0	0.009096	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091809	30091809	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:30091809C>T	ENST00000380752.5	-	10	1797	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	471					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCTCTGCCTCTGGTAAAAAG	0.453000													13	94					0	0	0.105934	0	0
APOBR	55911	broad.mit.edu	37	16	28507877	28507877	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:28507877G>T	ENST00000564831.1	+	2	1548	c.1515G>T	c.(1513-1515)gtG>gtT	p.V505V	APOBR_ENST00000328423.5_Silent_p.V496V|APOBR_ENST00000431282.1_Silent_p.V496V	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	496	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGATCCAGTGGCTGAGCTGC	0.647000													4	16					0.00909568	0.00986467	0.009096	1	0
FER1L6	654463	broad.mit.edu	37	8	125113448	125113448	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:125113448C>G	ENST00000522917.1	+	38	5200	c.4994C>G	c.(4993-4995)cCa>cGa	p.P1665R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1665R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1665	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGTATCTCCCAGCTGAGAAG	0.493000													7	57					0	0	0.029380	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77528766	77528766	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:77528766C>A	ENST00000477717.1	+	5	1121	c.886C>A	c.(886-888)Cgc>Agc	p.R296S		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	296					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTCATCACCGCTTTATCAC	0.418000													33	148					1.62565e-12	2.79217e-12	0.050027	1	0
ITGAM	3684	broad.mit.edu	37	16	31284733	31284733	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:31284733A>T	ENST00000544665.3	+	8	823	c.752A>T	c.(751-753)aAg>aTg	p.K251M	ITGAM_ENST00000287497.8_Missense_Mutation_p.K251M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	251	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AATGCCTTTAAGATCCTAGTT	0.483000													13	116					0	0	0.105934	0	0
WNT9B	7484	broad.mit.edu	37	17	44953888	44953888	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:44953888C>A	ENST00000393461.2	+	4	931	c.878C>A	c.(877-879)cCc>cAc	p.P293H	WNT9B_ENST00000290015.2_Missense_Mutation_p.P293H			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	293					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TTCTGCCGGCCCAGCAAGTAC	0.682000													8	53					1.58986e-06	2.20114e-06	0.069234	1	0
DDX60L	91351	broad.mit.edu	37	4	169336818	169336818	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:169336818T>A	ENST00000511577.1	-	21	3106	c.2859A>T	c.(2857-2859)gaA>gaT	p.E953D	DDX60L_ENST00000260184.7_Missense_Mutation_p.E953D|DDX60L_ENST00000505890.1_Missense_Mutation_p.E953D			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	953							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAGTCTAACTTCATATGATT	0.269000													3	24					0	0	0.009096	0	0
EYA3	2140	broad.mit.edu	37	1	28337580	28337580	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:28337580G>A	ENST00000373871.3	-	10	1027	c.787C>T	c.(787-789)Cca>Tca	p.P263S	EYA3_ENST00000545175.1_Missense_Mutation_p.P210S|EYA3_ENST00000540618.1_Missense_Mutation_p.P217S|EYA3_ENST00000436342.2_Missense_Mutation_p.P137S|EYA3_ENST00000373863.3_Missense_Mutation_p.P217S|EYA3_ENST00000373864.1_Missense_Mutation_p.P106S|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	263					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GACAAAGATGGACTTGTAGAA	0.458000													6	52					0	0	0.038147	0	0
UCP1	7350	broad.mit.edu	37	4	141489083	141489083	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:141489083G>T	ENST00000262999.3	-	2	250	c.175C>A	c.(175-177)Ctg>Atg	p.L59M		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	59					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATTGTTCCCAGGACACCTTTA	0.517000													7	63					5.18039e-06	6.96089e-06	0.038147	1	0
ZNF347	84671	broad.mit.edu	37	19	53643919	53643919	+	Missense_Mutation	SNP	C	C	A	rs150489253	byFrequency	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:53643919C>A	ENST00000452676.2	-	5	2591	c.2165G>T	c.(2164-2166)cGt>cTt	p.R722L	ZNF347_ENST00000334197.7_Missense_Mutation_p.R721L|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R722L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAGGCTTGAACGGACACTAAA	0.423000													15	84					1.3612e-06	1.90059e-06	0.132662	1	0
LGR5	8549	broad.mit.edu	37	12	71898398	71898398	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:71898398C>A	ENST00000266674.5	+	2	528	c.217C>A	c.(217-219)Ctc>Atc	p.L73I	LGR5_ENST00000540815.2_Missense_Mutation_p.L73I|LGR5_ENST00000536515.1_Missense_Mutation_p.L73I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	73						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCCCAGAGACCTCAGTATGAA	0.488000													52	777					4.44712e-29	8.71381e-29	0.139131	1	0
GRAMD4	23151	broad.mit.edu	37	22	47022737	47022737	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:47022737A>C	ENST00000406902.1	+	2	254	c.41A>C	c.(40-42)aAg>aCg	p.K14T	GRAMD4_ENST00000361034.3_Missense_Mutation_p.K14T			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	14					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGTCACAAGAGAGATGAC	0.562000													3	41					0	0	0.115264	0	0
FPR2	2358	broad.mit.edu	37	19	52272116	52272116	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:52272116C>A	ENST00000598776.1	+	2	977	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	FPR2_ENST00000598953.1_Missense_Mutation_p.L69M|FPR2_ENST00000340023.6_Missense_Mutation_p.L69M	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	69					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAACCTGGCCCTGGCTGACTT	0.522000													21	122					1.96895e-08	2.99353e-08	0.076483	1	0
CNGA3	1261	broad.mit.edu	37	2	98999890	98999890	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:98999890C>T	ENST00000393504.1	+	5	852	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Silent_p.N145N|CNGA3_ENST00000409937.1_Silent_p.N149N	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	145					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582000													6	56					0	0	0.029380	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249660	140249660	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140249660G>A	ENST00000398640.2	+	1	972	c.972G>A	c.(970-972)aaG>aaA	p.K324K	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACAGATAAGGGGACTCCCC	0.428000													6	27					0	0	0.029380	0	0
PIK3C3	5289	broad.mit.edu	37	18	39575853	39575853	+	Splice_Site	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:39575853G>C	ENST00000262039.4	+	8	872		c.e8-1		PIK3C3_ENST00000398870.3_Splice_Site	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATAATTTGTAGGAGAATTTAG	0.353000										TSP Lung(28;0.18)			3	48					0	0	0.115264	0	0
NLRP5	126206	broad.mit.edu	37	19	56549544	56549544	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:56549544C>A	ENST00000390649.3	+	10	2769	c.2769C>A	c.(2767-2769)tgC>tgA	p.C923*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	923						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCCCAGTGCGCCCTGCAGA	0.527000													18	80					1.22574e-08	1.87748e-08	0.069288	1	0
FAM87A	157693	broad.mit.edu	37	8	327671	327671	+	RNA	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:327671G>C	ENST00000330148.2	-	0	2790					NR_103537.1																						gtctacggctgcccctggaca	0.597000													2	1					0	0	0.115264	0	0
NUTM1	256646	broad.mit.edu	37	15	34647928	34647928	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:34647928T>C	ENST00000537011.1	+	8	2101	c.1719T>C	c.(1717-1719)gaT>gaC	p.D573D	NUTM1_ENST00000438749.3_Silent_p.D563D|NUTM1_ENST00000333756.4_Silent_p.D545D					NUT midline carcinoma, family member 1																		AAGCCCTAGATAGCCCCAGAG	0.617000													15	92					0	0	0.038395	0	0
ZNF772	400720	broad.mit.edu	37	19	57985206	57985206	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:57985206G>A	ENST00000343280.4	-	5	1166	c.906C>T	c.(904-906)acC>acT	p.T302T	AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.T261T|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Silent_p.T190T|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TGCGGCTAAAGGTTTTCCCAC	0.463000													19	119					0	0	0.038395	0	0
ITGA11	22801	broad.mit.edu	37	15	68607988	68607988	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:68607988C>A	ENST00000423218.2	-	22	2888		c.e22+1		ITGA11_ENST00000315757.7_Splice_Site			Q9UKX5	ITA11_HUMAN	integrin, alpha 11						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGGCCCTGACCTGCCTGCAG	0.592000													4	23					0.000602214	0.000702298	0.014758	1	0
ZIC4	84107	broad.mit.edu	37	3	147114052	147114052	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:147114052G>A	ENST00000383075.3	-	3	787	c.275C>T	c.(274-276)gCc>gTc	p.A92V	ZIC4_ENST00000425731.3_Missense_Mutation_p.A130V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A142V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A92V|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.A92V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	92	Poly-Ala.					nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CAGGGCTGCGGCAGCTGCCAG	0.687000													4	21					0	0	0.014758	0	0
NHLRC2	374354	broad.mit.edu	37	10	115668188	115668188	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:115668188G>C	ENST00000369301.3	+	11	2286	c.2074G>C	c.(2074-2076)Gac>Cac	p.D692H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	692					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CTGTAGTGCAGACAGCAGTGC	0.398000													10	102					0	0	0.058154	0	0
DHX58	79132	broad.mit.edu	37	17	40255790	40255790	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:40255790C>A	ENST00000251642.3	-	12	1812	c.1590G>T	c.(1588-1590)ttG>ttT	p.L530F		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	530					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCCGCTTGGTCAAGGCTGCCT	0.632000													5	15					3.59834e-05	4.59445e-05	0.021553	1	0
MC3R	4159	broad.mit.edu	37	20	54824388	54824388	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:54824388C>T	ENST00000243911.2	+	1	601	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	200					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGGCCCTCACCTTGATCGTGG	0.572000													32	164					0	0	0.050027	0	0
ZNF331	55422	broad.mit.edu	37	19	54080157	54080157	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:54080157G>T	ENST00000253144.9	+	7	1676	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	ZNF331_ENST00000511154.1_Nonsense_Mutation_p.E115*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.E115*|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.E115*|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.E115*|ZNF331_ENST00000449416.1_Nonsense_Mutation_p.E115*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.E115*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGCTACTAGAGAAGGCACCCC	0.443000			T	?	follicular thyroid adenoma								9	47					0.00621372	0.00683842	0.058154	1	0
ALK	238	broad.mit.edu	37	2	29754879	29754879	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:29754879G>A	ENST00000389048.3	-	4	1962	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	352	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCAGGTGCCTGTGCACCGAGA	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				28	165					0	0	0.134883	0	0
NPAP1	23742	broad.mit.edu	37	15	24921530	24921530	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:24921530G>A	ENST00000329468.2	+	1	990	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCGAAGGGGAGGATGACGAGA	0.617000													15	56					0	0	0.033300	0	0
LRRC7	57554	broad.mit.edu	37	1	70225942	70225942	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:70225942G>T	ENST00000310961.5	+	4	488	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.G57C|LRRC7_ENST00000035383.5_Missense_Mutation_p.G19C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	19						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGTTTCCGAGGTGAAGAAGA	0.453000													19	79					1.56452e-12	2.69282e-12	0.043863	1	0
MUC16	94025	broad.mit.edu	37	19	9007492	9007492	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:9007492G>T	ENST00000397910.4	-	43	39679	c.39476C>A	c.(39475-39477)cCc>cAc	p.P13159H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13161					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTACTTGTGGGGCTGGGGAC	0.458000													13	64					4.96729e-08	7.44187e-08	0.049695	1	0
SPTA1	6708	broad.mit.edu	37	1	158622334	158622334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:158622334C>A	ENST00000368148.3	-	23	3478	c.3298G>T	c.(3298-3300)Gag>Tag	p.E1100*	SPTA1_ENST00000368147.3_Nonsense_Mutation_p.E1100*	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1100					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			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)					GCCTTTTTCTCTTGAATCCAT	0.433000													8	84					0.000157383	0.000192853	0.038147	1	0
YEATS2	55689	broad.mit.edu	37	3	183432968	183432968	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:183432968A>T	ENST00000305135.5	+	2	213	c.18A>T	c.(16-18)cgA>cgT	p.R6R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	6					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAATCAAGCGAACCATCAAAG	0.368000													12	91					0	0	0.105934	0	0
DUSP15	128853	broad.mit.edu	37	20	30436608	30436608	+	Splice_Site	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:30436608C>T	ENST00000278979.3	-	9	803		c.e9+1					Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15							cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAGTGACTCACGTCCGCCATG	0.617000													3	10					0	0	0.115264	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50656172	50656172	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:50656172T>A	ENST00000248846.5	-	25	5557	c.5453A>T	c.(5452-5454)gAc>gTc	p.D1818V	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1818					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTCAGGCGTCCTGGTAGTA	0.622000													3	7					0	0	0.115264	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988199	92988199	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:92988199C>A	ENST00000523629.1	-	10	1736	c.1282G>T	c.(1282-1284)Gcg>Tcg	p.A428S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A391S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A401S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A391S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A428S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A439S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A391S|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A401S	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)	428					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TCCCGATGCGCGTCTATGAAA	0.483000													22	117					5.45024e-15	9.94366e-15	0.083992	1	0
EPHB3	2049	broad.mit.edu	37	3	184297667	184297667	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:184297667C>T	ENST00000330394.2	+	11	2569	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	706	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AAAAGTCGGCCAGTTATGATC	0.592000													6	46					0	0	0.021553	0	0
PRDM9	56979	broad.mit.edu	37	5	23509638	23509638	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:23509638G>A	ENST00000296682.3	+	3	311	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433000										HNSCC(3;0.000094)			24	175					0	0	0.083992	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139452	11139452	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:11139452G>C	ENST00000506868.1	-	1	59	c.8C>G	c.(7-9)aCt>aGt	p.T3S	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	3					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.T3S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GTATAGAAAAGTTATCATATC	0.308000													18	40					0	0	0.038395	0	0
TTK	7272	broad.mit.edu	37	6	80744816	80744816	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:80744816A>T	ENST00000509894.1	+	15	2555	c.1726A>T	c.(1726-1728)Aaa>Taa	p.K576*	TTK_ENST00000369798.2_Nonsense_Mutation_p.K577*|TTK_ENST00000230510.3_Nonsense_Mutation_p.K576*			P33981	TTK_HUMAN	TTK protein kinase	577	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTATTTGAATAAACTACAACA	0.274000													15	83					0	0	0.033300	0	0
CD1B	910	broad.mit.edu	37	1	158300792	158300792	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:158300792C>A	ENST00000368168.3	-	2	229	c.122G>T	c.(121-123)tGg>tTg	p.W41L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	41					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.W41L(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGTTTGTGCCCAGGTACTATT	0.493000													56	455					1.73933e-33	3.44925e-33	0.139131	1	0
WDR75	84128	broad.mit.edu	37	2	190328594	190328594	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:190328594G>C	ENST00000314761.4	+	11	1080	c.1020G>C	c.(1018-1020)ttG>ttC	p.L340F		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	340						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCACTGGTTTGATGATTGATC	0.358000													15	87					0	0	0.033300	0	0
PCDH15	65217	broad.mit.edu	37	10	55600137	55600137	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:55600137G>T	ENST00000373965.2	-	30	4341	c.3947C>A	c.(3946-3948)aCt>aAt	p.T1316N	PCDH15_ENST00000414778.1_Missense_Mutation_p.T1314N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1309N|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1287N|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1309N|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1316N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T920N|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1309N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1272N|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1238N|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1309N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1309					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCATAGACAGTCAAGTCACA	0.438000										HNSCC(58;0.16)			5	85					1.024e-07	1.51752e-07	0.014758	1	0
C2orf71	388939	broad.mit.edu	37	2	29295619	29295619	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:29295619A>T	ENST00000331664.5	-	1	1508	c.1509T>A	c.(1507-1509)tgT>tgA	p.C503*		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	503					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGCCAGGCACACAGACTCA	0.562000													16	65					0	0	0.043863	0	0
C10orf120	399814	broad.mit.edu	37	10	124457686	124457686	+	Missense_Mutation	SNP	G	G	T	rs144052210	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:124457686G>T	ENST00000329446.4	-	3	602	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	191										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AATGAGGAGCGTGTAAACCTT	0.483000													6	79					0.0215528	0.0229505	0.021553	1	0
ESRP1	54845	broad.mit.edu	37	8	95680241	95680241	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:95680241G>T	ENST00000433389.2	+	10	1186	c.996G>T	c.(994-996)ggG>ggT	p.G332G	ESRP1_ENST00000454170.2_Silent_p.G332G|ESRP1_ENST00000423620.2_Silent_p.G332G|ESRP1_ENST00000358397.5_Silent_p.G332G	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	332	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCATGCGGGGGCTCCCTTTCA	0.502000													19	92					5.26018e-13	9.18852e-13	0.062417	1	0
C7	730	broad.mit.edu	37	5	40958161	40958161	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:40958161G>T	ENST00000313164.9	+	11	1646	c.1287G>T	c.(1285-1287)aaG>aaT	p.K429N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	429	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGCTGGTAAAGGAAGTACCTT	0.393000													7	83					5.18039e-06	6.96089e-06	0.038147	1	0
B4GALT4	8702	broad.mit.edu	37	3	118937520	118937520	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:118937520G>A	ENST00000467604.1	-	6	1165	c.774C>T	c.(772-774)ggC>ggT	p.G258G	B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000483209.1_Silent_p.G258G|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Silent_p.G258G|B4GALT4_ENST00000393765.2_Silent_p.G258G			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	258					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	p.G258G(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CATCGTCTTCGCCTCCCCATC	0.488000													33	141					0	0	0.069456	0	0
TTBK1	84630	broad.mit.edu	37	6	43226906	43226906	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:43226906G>T	ENST00000259750.4	+	11	1230	c.1147G>T	c.(1147-1149)Ggc>Tgc	p.G383C	TTBK1_ENST00000304139.5_Missense_Mutation_p.G332C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	383						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGGGCTGGGCCCCAGTCC	0.632000													7	19					0.000274275	0.000326821	0.047766	1	0
COL5A1	1289	broad.mit.edu	37	9	137693824	137693824	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:137693824C>A	ENST00000371817.3	+	38	3391	c.2977C>A	c.(2977-2979)Cca>Aca	p.P993T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	993	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCGGCCCTCCAGGCCCCCC	0.647000													9	7					3.09899e-07	4.42481e-07	0.047766	1	0
HPS4	89781	broad.mit.edu	37	22	26854422	26854422	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:26854422C>A	ENST00000398145.2	-	12	2451	c.1835G>T	c.(1834-1836)aGc>aTc	p.S612I	HPS4_ENST00000402105.3_Missense_Mutation_p.S607I|HPS4_ENST00000398141.1_Missense_Mutation_p.S625I|HPS4_ENST00000336873.5_Missense_Mutation_p.S612I|HPS4_ENST00000493455.2_5'UTR	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	612					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATCAGCAAGCTCTGAATGCG	0.567000									Hermansky-Pudlak syndrome				5	47					8.12818e-05	0.00010111	0.029380	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003400	75003400	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:75003400G>A	ENST00000373359.2	-	1	1679	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	496	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATATTGTTCTGGCCAGTTCTG	0.483000													3	36					0	0	0.009096	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299581	125299581	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:125299581C>A	ENST00000538699.1	-	2	407	c.327G>T	c.(325-327)agG>agT	p.R109S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R109S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	109										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ACACCACCTGCCTGGCGTTCA	0.657000													5	32					0.0215528	0.0229505	0.021553	1	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447687	3447687	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrY:3447687C>T	ENST00000559055.2	+	1	532	c.402C>T	c.(400-402)caC>caT	p.H134H	TGIF2LY_ENST00000321217.4_Silent_p.H134H			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						ATGCCACCCACCTGCAGAGCA	0.577000													5	25					0	0	0.021553	0	0
LRP1B	53353	broad.mit.edu	37	2	141459321	141459321	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:141459321C>A	ENST00000389484.3	-	40	7367	c.6396G>T	c.(6394-6396)gaG>gaT	p.E2132D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2132					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATATTTTAACCTCCTTCAGGT	0.393000										TSP Lung(27;0.18)			8	89					2.17888e-05	2.83047e-05	0.058154	1	0
CNTN1	1272	broad.mit.edu	37	12	41414184	41414184	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:41414184C>T	ENST00000551295.2	+	20	2582	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	CNTN1_ENST00000347616.1_Missense_Mutation_p.S822F|CNTN1_ENST00000348761.2_Missense_Mutation_p.S811F|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	822	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTCTTATCATCTTCTGAGATA	0.284000													10	71					0	0	0.105934	0	0
CCDC40	55036	broad.mit.edu	37	17	78063608	78063608	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:78063608G>A	ENST00000397545.4	+	17	2784	c.2757G>A	c.(2755-2757)gaG>gaA	p.E919E	CCDC40_ENST00000374877.3_Silent_p.E919E|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	919					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGGCAAAAGAGATGCGTTCCT	0.512000													9	47					0	0	0.058154	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746316	77746316	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:77746316G>T	ENST00000409088.3	-	3	1093	c.679C>A	c.(679-681)Cgt>Agt	p.R227S	LRRTM4_ENST00000409093.1_Missense_Mutation_p.R227S|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R228S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R227S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R228S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	227						integral to membrane		p.R227G(1)		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)		TTGAAGAGACGTGGAAAATGA	0.448000													11	68					2.27111e-07	3.26547e-07	0.093190	1	0
MFAP3L	9848	broad.mit.edu	37	4	170913132	170913132	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:170913132G>A	ENST00000361618.3	-	3	934	c.627C>T	c.(625-627)ccC>ccT	p.P209P	MFAP3L_ENST00000393704.3_Silent_p.P106P|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	209						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AGGTGATGATGGGGATGCGCT	0.527000													6	101					0	0	0.029380	0	0
NELFB	25920	broad.mit.edu	37	9	140166547	140166547	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:140166547G>T	ENST00000343053.4	+	11	1697	c.1360G>T	c.(1360-1362)Gac>Tac	p.D454Y		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GACCTTTGGCGACTTGGCCTT	0.602000													3	11					0.004672	0.00518339	0.115264	1	0
PLCE1	51196	broad.mit.edu	37	10	96006109	96006109	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:96006109G>C	ENST00000260766.3	+	8	3461	c.2827G>C	c.(2827-2829)Gct>Cct	p.A943P	PLCE1_ENST00000371385.3_Missense_Mutation_p.A635P|PLCE1_ENST00000371380.2_Missense_Mutation_p.A943P|PLCE1_ENST00000371375.1_Missense_Mutation_p.A635P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	943					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			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCAGTGAAGGCTGTATACAT	0.463000													5	99					0	0	0.021553	0	0
OR1E2	8388	broad.mit.edu	37	17	3336374	3336374	+	Silent	SNP	G	G	C	rs436972	byFrequency	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:3336374G>C	ENST00000248384.1	-	1	761	c.762C>G	c.(760-762)ctC>ctG	p.L254L		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	254					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						ACACCACAGAGAGGTGGGAGC	0.468000													16	140					0	0	0.055883	0	0
PEG3	5178	broad.mit.edu	37	19	57325592	57325592	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:57325592C>A	ENST00000326441.9	-	10	4581	c.4218G>T	c.(4216-4218)gtG>gtT	p.V1406V	PEG3_ENST00000593695.1_Silent_p.V1280V|PEG3_ENST00000598410.1_Silent_p.V1282V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.V1406V|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1406	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		CAGCAGCCTCCACTTCTGGCT	0.567000													4	48					0.0293803	0.0311242	0.029380	1	0
UGT2B15	7366	broad.mit.edu	37	4	69535947	69535947	+	Silent	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:69535947A>G	ENST00000338206.5	-	1	399	c.390T>C	c.(388-390)gaT>gaC	p.D130D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	130					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCAAAACTGCATCTTTACAGA	0.348000													14	223					0	0	0.105934	0	0
TRMT1L	81627	broad.mit.edu	37	1	185089281	185089281	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:185089281T>C	ENST00000367506.5	-	15	2340	c.2072A>G	c.(2071-2073)tAc>tGc	p.Y691C	TRMT1L_ENST00000465827.1_5'UTR|TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	691						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGGGTGCTGTACTTTAAAAG	0.438000													9	108					0	0	0.069234	0	0
MYO5A	4644	broad.mit.edu	37	15	52656830	52656830	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:52656830C>T	ENST00000399231.3	-	24	3473	c.3230G>A	c.(3229-3231)aGa>aAa	p.R1077K	MYO5A_ENST00000358212.6_Missense_Mutation_p.R1077K|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1077K|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1077K|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1077K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1077					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTCTGATATCTCAGCCTTTC	0.373000													23	166					0	0	0.069288	0	0
CASP5	838	broad.mit.edu	37	11	104869611	104869611	+	Splice_Site	SNP	C	C	T	rs141481245	byFrequency	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:104869611C>T	ENST00000393141.2	-	7	1167		c.e7+1		CASP5_ENST00000444749.2_Splice_Site|CASP5_ENST00000418434.1_Splice_Site|CASP5_ENST00000260315.3_Splice_Site|CASP5_ENST00000393139.2_Splice_Site|CASP5_ENST00000531367.1_Splice_Site|CASP5_ENST00000526056.1_Splice_Site	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AAGACACATACGTGGTGTTGA	0.438000													25	207					0	0	0.108266	0	0
ANK3	288	broad.mit.edu	37	10	61833198	61833198	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:61833198C>T	ENST00000280772.1	-	37	7632	c.7441G>A	c.(7441-7443)Gag>Aag	p.E2481K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2481					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCGATTCCTCAGTATCAGAA	0.453000													6	105					0	0	0.029380	0	0
ZNF133	7692	broad.mit.edu	37	20	18296740	18296740	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:18296740T>C	ENST00000377671.3	+	7	1801	c.1242T>C	c.(1240-1242)tgT>tgC	p.C414C	ZNF133_ENST00000401790.1_Silent_p.C415C|ZNF133_ENST00000396026.3_Silent_p.C418C|ZNF133_ENST00000538547.1_Silent_p.C320C|ZNF133_ENST00000316358.4_Silent_p.C415C|ZNF133_ENST00000402618.2_Silent_p.C352C|ZNF133_ENST00000535822.1_Silent_p.C320C|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	415						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCGGGGTGTGTGGGCACAGCT	0.577000													10	177					0	0	0.119110	0	0
MYH13	8735	broad.mit.edu	37	17	10206550	10206550	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:10206550G>C	ENST00000418404.3	-	38	5793	c.5630C>G	c.(5629-5631)gCc>gGc	p.A1877G	MYH13_ENST00000570743.1_Missense_Mutation_p.A1877G|MYH13_ENST00000252172.4_Missense_Mutation_p.A1877G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1877					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCACTTTGGCCTGCAGCTT	0.597000													36	138					0	0	0.092188	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154116	3154116	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:3154116T>C	ENST00000333628.3	-	4	1381	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G		NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	440					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GTCCTCGCCCTCCTCCTCCTC	0.532000													5	51					0	0	0.021553	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435720	104435720	+	RNA	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:104435720C>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							TCACTTGACTCAGAGAGTGAT	0.408000													11	44					0	0	0.080935	0	0
ZNF260	339324	broad.mit.edu	37	19	37005529	37005529	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:37005529C>T	ENST00000523638.1	-	3	1733	c.612G>A	c.(610-612)aaG>aaA	p.K204K	ZNF260_ENST00000592282.1_Silent_p.K204K|ZNF260_ENST00000593142.1_Silent_p.K204K|ZNF260_ENST00000588993.1_Silent_p.K204K	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	204					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGAGGTTTTCCTTCTGGCTAA	0.403000													7	54					0	0	0.058154	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620548	81620548	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:81620548T>A	ENST00000356860.3	-	21	2087	c.1749A>T	c.(1747-1749)aaA>aaT	p.K583N	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K602N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	602						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCCTGTTTCCTTTGTCAATAT	0.294000													17	80					0	0	0.043863	0	0
CDH18	1016	broad.mit.edu	37	5	19839135	19839135	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:19839135C>A	ENST00000507958.1	-	0	951				CDH18_ENST00000502796.1_De_novo_Start_OutOfFrame|CDH18_ENST00000506372.1_De_novo_Start_OutOfFrame|CDH18_ENST00000511273.1_De_novo_Start_OutOfFrame|CDH18_ENST00000274170.4_De_novo_Start_OutOfFrame|CDH18_ENST00000382275.1_De_novo_Start_OutOfFrame			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					CCTTCCTTTCCTTGTCAGCTA	0.403000													8	40					0.00307968	0.00346834	0.038147	1	0
C14orf39	317761	broad.mit.edu	37	14	60903701	60903701	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:60903701T>A	ENST00000321731.3	-	18	1785	c.1626A>T	c.(1624-1626)tcA>tcT	p.S542S		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	542										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGTATGAGTTGAAGTGTCTG	0.333000													13	120					0	0	0.132662	0	0
PAX3	5077	broad.mit.edu	37	2	223096823	223096823	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:223096823C>G	ENST00000350526.4	-	5	902	c.766G>C	c.(766-768)Gcg>Ccg	p.A256P	PAX3_ENST00000392069.2_Missense_Mutation_p.A256P|PAX3_ENST00000344493.4_Missense_Mutation_p.A256P|PAX3_ENST00000336840.6_Missense_Mutation_p.A256P|PAX3_ENST00000392070.2_Missense_Mutation_p.A256P|PAX3_ENST00000409551.3_Missense_Mutation_p.A255P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	256					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGCTTCGCCCTCTGGGCC	0.512000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						12	98					0	0	0.093190	0	0
LSAMP	4045	broad.mit.edu	37	3	115738401	115738401	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:115738401G>C	ENST00000490035.1	-	3	974	c.475C>G	c.(475-477)Cct>Gct	p.P159A	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.P156A	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	159	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		ACAGGTTCAGGACGGCCATTG	0.478000													38	169					0	0	0.074837	0	0
SETBP1	26040	broad.mit.edu	37	18	42532344	42532344	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:42532344G>T	ENST00000282030.5	+	4	3335	c.3039G>T	c.(3037-3039)ttG>ttT	p.L1013F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1013						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTTCAGACTTGAAGTCAAAGA	0.433000									Schinzel-Giedion syndrome				12	134					3.07112e-06	4.18141e-06	0.080935	1	0
LINC01410	103352539	broad.mit.edu	37	9	66466233	66466233	+	RNA	SNP	C	C	A	rs12552537		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:66466233C>A	ENST00000424345.1	+	0	866																											gagagagagccggacagactc	0.458000													3	25					0.115264	0.120244	0.115264	1	0
OR4C15	81309	broad.mit.edu	37	11	55322796	55322796	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:55322796G>T	ENST00000314644.2	+	1	1014	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCAATCCTTTGATTTACACTT	0.353000										HNSCC(20;0.049)			16	157					1.52009e-12	2.62184e-12	0.132662	1	0
FSTL5	56884	broad.mit.edu	37	4	162697113	162697113	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:162697113G>A	ENST00000306100.5	-	5	959	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	FSTL5_ENST00000379164.4_Missense_Mutation_p.R174W|FSTL5_ENST00000427802.2_Missense_Mutation_p.R174W|FSTL5_ENST00000536695.1_Missense_Mutation_p.R174W	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	175	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGCTTCTTCCGAGATATGTCG	0.303000													5	76					0	0	0.014758	0	0
LGR5	8549	broad.mit.edu	37	12	71918219	71918219	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:71918219C>A	ENST00000266674.5	+	3	629	c.318C>A	c.(316-318)ccC>ccA	p.P106P	LGR5_ENST00000540815.2_Silent_p.P106P|LGR5_ENST00000536515.1_Silent_p.P106P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	106						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATACATTCCCAAGGGAGCAT	0.408000													31	67					9.17885e-22	1.75661e-21	0.059317	1	0
GRIN2B	2904	broad.mit.edu	37	12	14018818	14018818	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:14018818C>A	ENST00000279593.3	-	2	534	c.325G>T	c.(325-327)Gcc>Tcc	p.A109S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	109					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A109T(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGATCTGGGCGATGGCTTCC	0.542000													33	122					9.65021e-13	1.67856e-12	0.045705	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110451559	110451559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:110451559G>T	ENST00000260283.4	-	16	2395	c.2111C>A	c.(2110-2112)tCa>tAa	p.S704*	ARHGAP20_ENST00000533353.1_Nonsense_Mutation_p.S678*|ARHGAP20_ENST00000528829.1_Nonsense_Mutation_p.S668*|ARHGAP20_ENST00000527598.1_Nonsense_Mutation_p.S668*|ARHGAP20_ENST00000524756.1_Nonsense_Mutation_p.S681*|ARHGAP20_ENST00000357139.3_Nonsense_Mutation_p.S678*|ARHGAP20_ENST00000529591.1_Nonsense_Mutation_p.S247*	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	704					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCTGGGCTCTGAGCAACGCCG	0.527000													8	63					0.00448238	0.00501367	0.047766	1	0
CARD11	84433	broad.mit.edu	37	7	2978336	2978336	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:2978336G>T	ENST00000396946.4	-	7	1397	c.994C>A	c.(994-996)Cag>Aag	p.Q332K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	332					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCTGCCTGGCGGGCCTCC	0.667000			Mis		DLBCL								3	14					0.00909568	0.00986467	0.009096	1	0
SMAD4	4089	broad.mit.edu	37	18	48584798	48584798	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:48584798G>T	ENST00000342988.3	+	7	1414	c.876G>T	c.(874-876)ccG>ccT	p.P292P	SMAD4_ENST00000398417.2_Silent_p.P292P|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	292	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGCACCACCCGCCTATGCCGC	0.433000													16	61					3.32936e-07	4.74549e-07	0.038395	1	0
FOLH1B	219595	broad.mit.edu	37	11	89420596	89420596	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:89420596G>T	ENST00000532352.1	+	0	1411							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGAGTTCAGTGGCATGCCCAG	0.338000													10	71					4.7546e-09	7.39305e-09	0.146539	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912649	77912649	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:77912649C>T	ENST00000321110.1	-	2	1564	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	423							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGATTGCAGCCTGCATAGGTT	0.522000													4	38					0	0	0.021553	0	0
TRPV6	55503	broad.mit.edu	37	7	142569474	142569474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:142569474C>A	ENST00000359396.3	-	15	2409	c.2164G>T	c.(2164-2166)Gaa>Taa	p.E722*		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	722					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGATATTCCCAGCTCTCC	0.532000													24	72					1.17739e-12	2.03932e-12	0.108266	1	0
TTC27	55622	broad.mit.edu	37	2	33003038	33003038	+	Silent	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:33003038A>G	ENST00000317907.4	+	14	2001	c.1770A>G	c.(1768-1770)ctA>ctG	p.L590L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	590							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGACTCTAGAACCCGATG	0.443000													6	54					0	0	0.047766	0	0
PAPL	390928	broad.mit.edu	37	19	39575844	39575844	+	Translation_Start_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:39575844C>A	ENST00000331256.5	+	0	209					NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN								extracellular region	acid phosphatase activity|metal ion binding										TCCTGCTGTACCTGTGGGGAG	0.612000													28	103					3.65163e-15	6.70691e-15	0.116897	1	0
FBN2	2201	broad.mit.edu	37	5	127641273	127641273	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:127641273G>T	ENST00000508053.1	-	50	6578	c.5604C>A	c.(5602-5604)atC>atA	p.I1868I	FBN2_ENST00000262464.4_Silent_p.I1868I			P35556	FBN2_HUMAN	fibrillin 2	1868	EGF-like 30; calcium-binding.				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			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)		CAGGACTATTGATGCAGTCTG	0.443000													17	71					1.5739e-10	2.60518e-10	0.146539	1	0
FH	2271	broad.mit.edu	37	1	241675424	241675424	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:241675424T>C	ENST00000366560.3	-	4	436	c.398A>G	c.(397-399)aAt>aGt	p.N133S		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	133					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AAAATGATCATTTAATTTACC	0.323000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				9	142					0	0	0.058154	0	0
PCDH17	27253	broad.mit.edu	37	13	58208384	58208384	+	Silent	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:58208384G>C	ENST00000377918.3	+	1	1730	c.1704G>C	c.(1702-1704)acG>acC	p.T568T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	568	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.T568T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACGCCACGGTGAGGGTGA	0.622000													4	37					0	0	0.009096	0	0
OR52E6	390078	broad.mit.edu	37	11	5862832	5862832	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:5862832T>A	ENST00000329322.5	-	1	295	c.296A>T	c.(295-297)tAc>tTc	p.Y99F	OR52E6_ENST00000379946.2_Missense_Mutation_p.Y103F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAAAGGTAGCCTCCAAA	0.458000													75	353					0	0	0.139131	0	0
OR8H2	390151	broad.mit.edu	37	11	55872681	55872681	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:55872681C>T	ENST00000313503.1	+	1	163	c.163C>T	c.(163-165)Cag>Tag	p.Q55*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CCTGGACCTCCAGCTTCACAC	0.423000										HNSCC(53;0.14)			37	413					0	0	0.104719	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671766	77671766	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:77671766T>C	ENST00000407578.2	-	56	9789	c.9523A>G	c.(9523-9525)Atc>Gtc	p.I3175V	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I3137V|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I3137V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3137	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAGCTTTGATAGTAGCCAAA	0.373000													12	68					0	0	0.080935	0	0
LGR6	59352	broad.mit.edu	37	1	202279399	202279399	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:202279399A>T	ENST00000367278.3	+	16	1570	c.1481A>T	c.(1480-1482)cAg>cTg	p.Q494L	LGR6_ENST00000439764.2_Missense_Mutation_p.Q355L|LGR6_ENST00000255432.7_Missense_Mutation_p.Q442L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	494						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCCTCTGGGCAGTGGGAGGCT	0.577000													8	75					0	0	0.038147	0	0
MIR890	100126303	broad.mit.edu	37	X	145075849	145075849	+	RNA	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:145075849C>T	ENST00000401256.1	-	0	20					NR_030589.1																						CAACTGATGCCTTTCCAAGTA	0.483000													55	78					0	0	0.139131	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634343	70634343	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:70634343C>T	ENST00000381269.2	-	2	1550	c.797G>A	c.(796-798)cGc>cAc	p.R266H	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R266H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R266H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R266H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R266H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	266	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R266H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTTGTCTGTGCGGTACTTTTT	0.468000													15	59					0	0	0.132662	0	0
ZNF534	147658	broad.mit.edu	37	19	52937330	52937330	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:52937330C>T	ENST00000332323.6	+	2	199	c.138C>T	c.(136-138)tcC>tcT	p.S46S	ZNF534_ENST00000432303.2_Silent_p.S46S|ZNF534_ENST00000433050.1_Silent_p.S46S|ZNF534_ENST00000301085.4_Silent_p.S46S	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACCTGGTCTCCCTAGGTGAGG	0.498000													13	78					0	0	0.105934	0	0
ALPK2	115701	broad.mit.edu	37	18	56204296	56204296	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:56204296A>T	ENST00000361673.3	-	5	3336	c.3123T>A	c.(3121-3123)ccT>ccA	p.P1041P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1041							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGGATGCACGAGGGAACCTCT	0.468000													4	73					0	0	0.009096	0	0
ZNF232	7775	broad.mit.edu	37	17	5012681	5012681	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:5012681C>A	ENST00000416429.2	-	3	703	c.425G>T	c.(424-426)aGg>aTg	p.R142M	ZNF232_ENST00000250076.3_Intron|ZNF232_ENST00000575898.1_Intron|ZNF232_ENST00000575538.1_Intron			Q9UNY5	ZN232_HUMAN	zinc finger protein 232	0					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						CCAAATCCCCCTTCCCACCTG	0.572000													24	102					7.92952e-12	1.34507e-11	0.091800	1	0
MUC17	140453	broad.mit.edu	37	7	100681998	100681998	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:100681998C>A	ENST00000306151.4	+	3	7365	c.7301C>A	c.(7300-7302)gCc>gAc	p.A2434D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2434	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TCTACTGAAGCCAGTTCATCT	0.542000													40	83					1.6237e-14	2.94273e-14	0.131918	1	0
MUC16	94025	broad.mit.edu	37	19	9074611	9074611	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:9074611G>C	ENST00000397910.4	-	3	13038	c.12835C>G	c.(12835-12837)Cac>Gac	p.H4279D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4281	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H4279N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATGATGTGGGAGGTAACC	0.498000													38	126					0	0	0.098360	0	0
OR4K14	122740	broad.mit.edu	37	14	20483242	20483242	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:20483242G>A	ENST00000305045.2	-	1	110	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCAGCATAATGGCCACATAGA	0.433000													4	24					0	0	0.009096	0	0
OR4M2	390538	broad.mit.edu	37	15	22369514	22369514	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:22369514G>T	ENST00000332663.2	+	1	1037	c.939G>T	c.(937-939)aaG>aaT	p.K313N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAAAGAGAAGTGAAAGATAA	0.348000													4	47					0.00909568	0.00986467	0.009096	1	0
HMGCS1	3157	broad.mit.edu	37	5	43298642	43298642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:43298642C>T	ENST00000325110.6	-	3	632	c.426G>A	c.(424-426)tgG>tgA	p.W142*	HMGCS1_ENST00000433297.2_Nonsense_Mutation_p.W142*	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	142					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TGGACTCAATCCAGTTAACAG	0.433000													24	68					0	0	0.099896	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84549690	84549690	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:84549690C>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							ATCCATGCCCCACAGGGATCC	0.493000													8	20					2.74318e-10	4.46855e-10	0.058154	1	0
RYR3	6263	broad.mit.edu	37	15	33936549	33936549	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:33936549C>T	ENST00000389232.4	+	28	3664	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	RYR3_ENST00000415757.3_Silent_p.I1198I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1198	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TATCTCAGATCGGCCGCATGA	0.527000													3	30					0	0	0.115264	0	0
NLRP7	199713	broad.mit.edu	37	19	55451464	55451464	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:55451464G>A	ENST00000446217.1	-	6	1209	c.807C>T	c.(805-807)atC>atT	p.I269I	NLRP7_ENST00000328092.5_Silent_p.I241I|NLRP7_ENST00000448121.2_Silent_p.I241I|NLRP7_ENST00000592784.1_Silent_p.I241I|NLRP7_ENST00000590030.1_Silent_p.I241I|NLRP7_ENST00000588756.1_Silent_p.I241I|NLRP7_ENST00000340844.2_Silent_p.I241I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	241	NACHT.						ATP binding			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)		CTTGGGCTAGGATGCTTGGAA	0.567000													10	46					0	0	0.119110	0	0
IQCE	23288	broad.mit.edu	37	7	2611888	2611888	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:2611888G>T	ENST00000402050.2	+	5	506	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	IQCE_ENST00000438376.2_Missense_Mutation_p.G92C|IQCE_ENST00000325979.7_Missense_Mutation_p.G43C|IQCE_ENST00000404984.1_Missense_Mutation_p.G57C	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	108										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TGGCGTCCCCGGCGGCACTCC	0.582000													8	54					0.000274275	0.000326821	0.047766	1	0
KEL	3792	broad.mit.edu	37	7	142649603	142649603	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:142649603G>C	ENST00000355265.2	-	10	1670	c.1196C>G	c.(1195-1197)cCa>cGa	p.P399R	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	399					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCATGGGTGGTTGCTCTGT	0.542000													44	144					0	0	0.131918	0	0
CSMD2	114784	broad.mit.edu	37	1	34046432	34046432	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:34046432G>T	ENST00000373381.4	-	48	7484	c.7308C>A	c.(7306-7308)acC>acA	p.T2436T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2438	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCTTGAGCTGGTGACAATCA	0.502000													3	65					0.000602214	0.000702298	0.014758	1	0
SPTA1	6708	broad.mit.edu	37	1	158622401	158622401	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:158622401A>T	ENST00000368148.3	-	23	3411	c.3231T>A	c.(3229-3231)cgT>cgA	p.R1077R	SPTA1_ENST00000368147.3_Silent_p.R1077R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1077					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			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)					GTTGCAATAGACGACGTCTGC	0.433000													14	61					0	0	0.119110	0	0
CSDE1	7812	broad.mit.edu	37	1	115280105	115280105	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:115280105T>C	ENST00000438362.2	-	5	905	c.527A>G	c.(526-528)tAc>tGc	p.Y176C	CSDE1_ENST00000358528.4_Missense_Mutation_p.Y130C|CSDE1_ENST00000369530.1_Intron|CSDE1_ENST00000261443.5_Intron|CSDE1_ENST00000534699.1_Missense_Mutation_p.Y130C|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000339438.6_Intron	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	130	CSD 2; truncated.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTACGTTCGTAGCATACACT	0.403000													3	48					0	0	0.115264	0	0
PDE5A	8654	broad.mit.edu	37	4	120527900	120527900	+	Silent	SNP	C	C	A	rs148467877		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:120527900C>A	ENST00000354960.3	-	2	1024	c.705G>T	c.(703-705)gcG>gcT	p.A235A	PDE5A_ENST00000394439.1_Silent_p.A183A|PDE5A_ENST00000264805.5_Silent_p.A193A	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	235	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GCTCACCAAGCGCTGCCACAT	0.512000													27	141					6.32553e-13	1.1026e-12	0.099896	1	0
DESI2	51029	broad.mit.edu	37	1	244855205	244855205	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:244855205G>T	ENST00000302550.11	+	4	613	c.234G>T	c.(232-234)acG>acT	p.T78T	DESI2_ENST00000263831.7_Silent_p.T45T	NM_016076.3	NP_057160.2	Q9BSY9	PPDE1_HUMAN	desumoylating isopeptidase 2	78	PPPDE peptidase.																TAGGGAGCACGGACTTCCTAG	0.289000													4	61					0.00024832	0.00029937	0.009096	1	0
KCNN3	3782	broad.mit.edu	37	1	154680678	154680678	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:154680678C>A	ENST00000271915.3	-	8	2285	c.1970G>T	c.(1969-1971)gGc>gTc	p.G657V	KCNN3_ENST00000358505.2_Missense_Mutation_p.G344V|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_Missense_Mutation_p.G352V	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	662						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CTCCAGGCTGCCAATCTGCTT	0.572000													16	136					9.16793e-09	1.40953e-08	0.033300	1	0
KMT2C	58508	broad.mit.edu	37	7	152055719	152055719	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:152055719C>A	ENST00000355193.2	-	2	421	c.203G>T	c.(202-204)aGc>aTc	p.S68I	KMT2C_ENST00000262189.6_Missense_Mutation_p.S68I					lysine (K)-specific methyltransferase 2C																		CCCATCCATGCTGTCCTCATC	0.343000													31	97					5.8336e-16	1.08113e-15	0.059317	1	0
SERPINB7	8710	broad.mit.edu	37	18	61468104	61468104	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:61468104C>T	ENST00000398019.2	+	7	927	c.602C>T	c.(601-603)tCt>tTt	p.S201F	SERPINB7_ENST00000540675.1_Missense_Mutation_p.S184F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.S201F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.S201F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	201					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTTCAGTGCTCTGGGAAGGCA	0.363000													7	63					0	0	0.038147	0	0
OSMR	9180	broad.mit.edu	37	5	38885471	38885471	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:38885471G>T	ENST00000274276.3	+	6	1126	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	OSMR_ENST00000502536.1_Missense_Mutation_p.D242Y	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	242					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGAGCCCAAGGACTTTTCTTG	0.438000													14	150					1.49906e-05	1.96916e-05	0.119110	1	0
SMYD1	150572	broad.mit.edu	37	2	88410030	88410030	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:88410030G>A	ENST00000419482.2	+	10	1557	c.1472G>A	c.(1471-1473)tGa>tAa	p.*491*	SMYD1_ENST00000444564.2_Silent_p.*478*|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AAGAAGCAATGAGGACTGCCC	0.597000													4	22					0	0	0.009096	0	0
ZNF177	7730	broad.mit.edu	37	19	9492394	9492394	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:9492394A>G	ENST00000541595.2	+	12	1536	c.907A>G	c.(907-909)Aca>Gca	p.T303A	ZNF177_ENST00000343499.4_Missense_Mutation_p.T303A|ZNF177_ENST00000589262.1_Missense_Mutation_p.T463A|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000602738.1_Missense_Mutation_p.T303A|ZNF177_ENST00000434737.2_Missense_Mutation_p.T463A	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	303					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AGCCTTTAGCACAAGCACTAA	0.448000													29	187					0	0	0.045705	0	0
PSKH2	85481	broad.mit.edu	37	8	87060979	87060979	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:87060979G>A	ENST00000276616.2	-	3	944	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	290	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCGCCAAGTGGGAAATGCTTG	0.398000													14	49					0	0	0.119110	0	0
TRPC4	7223	broad.mit.edu	37	13	38320458	38320458	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:38320458G>T	ENST00000379705.3	-	3	1370	c.513C>A	c.(511-513)ccC>ccA	p.P171P	TRPC4_ENST00000355779.2_Silent_p.P171P|TRPC4_ENST00000447043.1_Silent_p.P171P|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379673.2_Silent_p.P171P|TRPC4_ENST00000426868.2_Silent_p.P171P|TRPC4_ENST00000358477.2_Silent_p.P171P|TRPC4_ENST00000379681.3_Silent_p.P171P|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	171	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGACCTCGTGGGGTCGAGGCA	0.478000													20	96					1.00905e-13	1.80485e-13	0.049695	1	0
WDR78	79819	broad.mit.edu	37	1	67390500	67390500	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:67390500T>A	ENST00000371026.3	-	1	70	c.15A>T	c.(13-15)aaA>aaT	p.K5N	WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.K5N|WDR78_ENST00000371022.3_Missense_Mutation_p.K5N	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	5										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCCGGAATGTTTGCCGGGCG	0.697000													7	73					0	0	0.038147	0	0
AIM2	9447	broad.mit.edu	37	1	159043057	159043057	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:159043057G>T	ENST00000368130.4	-	2	521	c.233C>A	c.(232-234)gCa>gAa	p.A78E		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	78	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AAGACGTTTTGCCAAAAGCAT	0.463000													6	76					0.00116845	0.0013398	0.021553	1	0
GAR1	54433	broad.mit.edu	37	4	110745573	110745573	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:110745573G>T	ENST00000226796.6	+	7	904		c.e7-1		GAR1_ENST00000394631.3_Splice_Site	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein						rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						CTCTTAATCAGGGAGAGGACA	0.323000													14	120					9.31168e-06	1.24105e-05	0.105934	1	0
HESX1	8820	broad.mit.edu	37	3	57233791	57233791	+	Splice_Site	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:57233791T>C	ENST00000295934.3	-	1	192	c.157_splice	c.e1+1	p.S52_splice	HESX1_ENST00000473921.1_Splice_Site_p.S52_splice	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	52						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GTGGCATACCTGATGAGCTGC	0.398000													3	57					0	0	0.115264	0	0
ZNF540	163255	broad.mit.edu	37	19	38102961	38102961	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:38102961A>T	ENST00000592533.1	+	5	1112	c.780A>T	c.(778-780)cgA>cgT	p.R260R	ZNF540_ENST00000343599.5_Silent_p.R260R|ZNF540_ENST00000589117.1_Silent_p.R228R|ZNF540_ENST00000316433.4_Silent_p.R260R	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACTTAATCGACATCAGAAAA	0.338000													7	18					0	0	0.029380	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15220	15220	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrM:15220A>G	ENST00000361789.2	+	1	474	c.474A>G	c.(472-474)acA>acG	p.158_158insT						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TACATTGGGACAGACCTAGTT	0.468000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	169	247					0	0	0.139131	0	0
ACSM1	116285	broad.mit.edu	37	16	20648101	20648101	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:20648101A>T	ENST00000219151.4	-	10	1422	c.212T>A	c.(211-213)aTc>aAc	p.I71N	ACSM1_ENST00000520010.1_Missense_Mutation_p.I420N|ACSM1_ENST00000307493.4_Missense_Mutation_p.I420N			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	420					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GACAGGTTTGATTCTGATGCC	0.537000													19	105					0	0	0.055883	0	0
HDAC9	9734	broad.mit.edu	37	7	18875156	18875156	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:18875156C>T	ENST00000406451.3	+	20	2674	c.2524C>T	c.(2524-2526)Ctc>Ttc	p.L842F	HDAC9_ENST00000441542.2_Missense_Mutation_p.L845F|HDAC9_ENST00000432645.2_Missense_Mutation_p.L842F|HDAC9_ENST00000401921.1_Missense_Mutation_p.L801F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	842	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTACATTTCACTCCATCGCTA	0.453000													22	82					0	0	0.076483	0	0
ATRN	8455	broad.mit.edu	37	20	3542927	3542927	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:3542927G>A	ENST00000262919.5	+	9	1520	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ATRN_ENST00000446916.2_Silent_p.K484K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	484					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			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						TTCCAGATAAGAACACATGGA	0.483000													32	206					0	0	0.054565	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667719	82667719	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:82667719G>T	ENST00000297265.4	+	3	676	c.483_splice	c.e3+1	p.E161_splice		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	161	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACTTTGATGAGGTACGTAACC	0.413000													8	58					1.12685e-05	1.48977e-05	0.047766	1	0
CDH12	1010	broad.mit.edu	37	5	21755855	21755855	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:21755855G>T	ENST00000382254.1	-	14	2816	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H	CDH12_ENST00000504376.2_Missense_Mutation_p.P577H|CDH12_ENST00000522262.1_Missense_Mutation_p.P537H|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	577	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GCTCTGGACAGGGTAGCTGCT	0.463000										HNSCC(59;0.17)			6	193					2.17888e-05	2.83047e-05	0.058154	1	0
ZNF716	441234	broad.mit.edu	37	7	57522270	57522270	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:57522270C>A	ENST00000420713.1	+	2	256	c.144C>A	c.(142-144)aaC>aaA	p.N48K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TGTTAGAGAACTACAGAAACC	0.378000													119	103					8.41786e-79	1.70223e-78	0.139131	1	0
ASH1L	55870	broad.mit.edu	37	1	155452241	155452241	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:155452241C>A	ENST00000368346.3	-	3	1060		c.e3-1		ASH1L_ENST00000392403.3_Splice_Site|ASH1L_ENST00000548830.1_Splice_Site			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						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			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)			TTGAAGGGTCCTAAAATTTGA	0.368000													10	78					0.00621372	0.00683842	0.058154	1	0
TTN	7273	broad.mit.edu	37	2	179429386	179429386	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:179429386G>T	ENST00000589042.1	-	326	81697	c.81473C>A	c.(81472-81474)cCt>cAt	p.P27158H	TTN_ENST00000460472.2_Missense_Mutation_p.P18093H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18218H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P18285H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25517H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P24590H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25517	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CACTTTGCTAGGCTTGCCAAT	0.448000													5	59					5.9392e-07	8.37815e-07	0.021553	1	0
GFRAL	389400	broad.mit.edu	37	6	55216276	55216276	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:55216276A>T	ENST00000340465.2	+	5	682	c.596A>T	c.(595-597)cAg>cTg	p.Q199L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	199						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATACCTTGTCAGCAGTCCAAA	0.438000													47	216					0	0	0.139131	0	0
PAX5	5079	broad.mit.edu	37	9	36846906	36846906	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:36846906G>T	ENST00000358127.4	-	9	1107	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T	PAX5_ENST00000414447.1_Missense_Mutation_p.P302T|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000446742.1_Missense_Mutation_p.P245T|PAX5_ENST00000522003.1_Missense_Mutation_p.P237T|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000523241.1_Silent_p.V267V|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000377852.2_Missense_Mutation_p.P311T	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	345					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGGCTGTAGGGACTCCCGGAA	0.597000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								6	17					8.12818e-05	0.00010111	0.029380	1	0
COL11A1	1301	broad.mit.edu	37	1	103467508	103467508	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:103467508T>C	ENST00000358392.2	-	24	2468	c.2151A>G	c.(2149-2151)caA>caG	p.Q717Q	COL11A1_ENST00000353414.4_Silent_p.Q666Q|COL11A1_ENST00000370096.3_Silent_p.Q705Q|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Silent_p.Q589Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	705	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAATTGGACCTTGTGGACCAG	0.348000													10	85					0	0	0.105934	0	0
ZNF330	27309	broad.mit.edu	37	4	142152618	142152618	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:142152618G>C	ENST00000262990.4	+	8	777	c.549G>C	c.(547-549)caG>caC	p.Q183H	ZNF330_ENST00000421169.2_Missense_Mutation_p.Q123H	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	183						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.Q183H(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GGCTTGGTCAGCACTCATGTC	0.353000													15	90					0	0	0.132662	0	0
PIWIL1	9271	broad.mit.edu	37	12	130839155	130839155	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:130839155G>T	ENST00000245255.3	+	10	1390	c.1118G>T	c.(1117-1119)gGg>gTg	p.G373V		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	373	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CGGGGCCCTGGGGGGACACTG	0.547000													10	114					7.03913e-09	1.08835e-08	0.093190	1	0
ACSL3	2181	broad.mit.edu	37	2	223797991	223797991	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:223797991G>T	ENST00000357430.3	+	15	2371	c.1840G>T	c.(1840-1842)Gca>Tca	p.A614S	ACSL3_ENST00000392066.3_Missense_Mutation_p.A614S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	614					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTGTGCATATGCAAACAGGTA	0.363000			T	ETV1	prostate								6	100					8.12818e-05	0.00010111	0.029380	1	0
PCDHB1	29930	broad.mit.edu	37	5	140432413	140432413	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140432413G>T	ENST00000306549.3	+	1	1435	c.1358G>T	c.(1357-1359)cGg>cTg	p.R453L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		453					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R453Q(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAATATTTCGGGAAGATTCC	0.438000													16	53					1.02788e-11	1.73284e-11	0.033300	1	0
TK2	7084	broad.mit.edu	37	16	66551088	66551088	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:66551088T>A	ENST00000299697.7	-	8	919	c.695A>T	c.(694-696)tAc>tTc	p.Y232F	TK2_ENST00000451102.2_Missense_Mutation_p.Y190F|TK2_ENST00000544898.1_Missense_Mutation_p.Y141F|TK2_ENST00000545043.2_Missense_Mutation_p.Y165F|TK2_ENST00000527800.1_Missense_Mutation_p.Y93F|TK2_ENST00000527284.1_Missense_Mutation_p.Y159F|TK2_ENST00000563369.2_Missense_Mutation_p.Y93F|TK2_ENST00000564917.1_Missense_Mutation_p.Y190F|TK2_ENST00000417693.3_Missense_Mutation_p.Y172F|RP11-403P17.5_ENST00000561728.1_Missense_Mutation_p.L6F|TK2_ENST00000525974.1_Missense_Mutation_p.Y93F	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TAACCTCTGGTAACAAGTCTC	0.483000													23	194					0	0	0.091800	0	0
BCAT2	587	broad.mit.edu	37	19	49300495	49300495	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:49300495T>A	ENST00000402551.1	-	8	1291	c.671A>T	c.(670-672)gAg>gTg	p.E224V	BCAT2_ENST00000316273.6_Missense_Mutation_p.E264V|BCAT2_ENST00000599246.1_Missense_Mutation_p.E172V|BCAT2_ENST00000598162.1_Missense_Mutation_p.E264V|BCAT2_ENST00000597011.1_Missense_Mutation_p.E224V|BCAT2_ENST00000545387.2_Missense_Mutation_p.E172V			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	264						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	GGTTCCCACCTCGGTGAGCTG	0.597000													5	15					0	0	0.014758	0	0
SIX2	10736	broad.mit.edu	37	2	45236131	45236131	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:45236131C>A	ENST00000303077.6	-	1	438	c.119G>T	c.(118-120)tGc>tTc	p.C40F		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	40						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGGTGCTCGCAGGCGGGCAG	0.647000													4	17					0.00909568	0.00986467	0.009096	1	0
PRKD1	5587	broad.mit.edu	37	14	30108069	30108069	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:30108069C>A	ENST00000331968.5	-	5	967	c.738G>T	c.(736-738)agG>agT	p.R246S	PRKD1_ENST00000551644.1_5'UTR|PRKD1_ENST00000415220.2_Missense_Mutation_p.R254S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	246					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAGAATTTGACCTCTTCTCTC	0.368000													5	51					0.0293803	0.0311242	0.029380	1	0
C7orf60	154743	broad.mit.edu	37	7	112472727	112472727	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:112472727C>A	ENST00000297145.4	-	4	642	c.477G>T	c.(475-477)ttG>ttT	p.L159F	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	159										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AGGCTTGTAGCAACCTAAAAA	0.323000													12	97					7.03913e-09	1.08835e-08	0.093190	1	0
ADCY2	108	broad.mit.edu	37	5	7789844	7789844	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:7789844C>A	ENST00000338316.4	+	20	2648	c.2559C>A	c.(2557-2559)cgC>cgA	p.R853R	ADCY2_ENST00000537121.1_Silent_p.R673R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532000													14	42					3.45872e-05	4.47182e-05	0.146539	1	0
FASTKD3	79072	broad.mit.edu	37	5	7867304	7867304	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:7867304T>G	ENST00000264669.5	-	2	1029	c.893A>C	c.(892-894)cAa>cCa	p.Q298P	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	298					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTGAGCATTTGGCTAATCAA	0.373000													18	102					0	0	0.043863	0	0
HOXD10	3236	broad.mit.edu	37	2	176981711	176981711	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:176981711C>A	ENST00000249501.4	+	1	405	c.150C>A	c.(148-150)acC>acA	p.T50T	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	50						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAATGCAAACCTGTGGACTGC	0.493000													12	78					0.00010058	0.000124737	0.093190	1	0
PMCHL2	5370	broad.mit.edu	37	5	70671723	70671723	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:70671723G>T	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							TGCACTAGAAGGATCTGTAGC	0.363000													4	36					0.00024832	0.00029937	0.009096	1	0
SUGP1	57794	broad.mit.edu	37	19	19413082	19413082	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:19413082C>G	ENST00000247001.5	-	7	1226	c.879G>C	c.(877-879)caG>caC	p.Q293H	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	293					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ACCTGAATGCCTGGTTCTCAC	0.607000													6	39					0	0	0.038147	0	0
FRYL	285527	broad.mit.edu	37	4	48607768	48607768	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:48607768G>A	ENST00000358350.4	-	11	1428	c.824C>T	c.(823-825)cCt>cTt	p.P275L	FRYL_ENST00000507711.1_Missense_Mutation_p.P275L|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.P275L|FRYL_ENST00000537810.1_Missense_Mutation_p.P275L|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCAGCTACAGGGATAAGAAT	0.303000													15	96					0	0	0.033300	0	0
UNC13C	440279	broad.mit.edu	37	15	54916084	54916084	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:54916084G>A	ENST00000545554.1	+	31	6291	c.6291G>A	c.(6289-6291)aaG>aaA	p.K2097K	UNC13C_ENST00000539562.2_Silent_p.K18K|UNC13C_ENST00000537900.1_Silent_p.K2095K|UNC13C_ENST00000260323.11_Silent_p.K2097K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2097	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGGAGACAAGAAGAGAAAAC	0.393000													5	125					0	0	0.021553	0	0
LRTM2	654429	broad.mit.edu	37	12	1940101	1940101	+	Splice_Site	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:1940101G>A	ENST00000543818.1	+	4	910	c.67_splice	c.e4-1	p.W23_splice	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Splice_Site_p.W23_splice|LRTM2_ENST00000535041.1_Splice_Site_p.W23_splice|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_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	23						integral to membrane				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)			TCCCACCAAGGGATCACCTGC	0.592000													10	15					0	0	0.069234	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145160	55145160	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:55145160T>A	ENST00000370862.3	+	6	1359	c.1023T>A	c.(1021-1023)acT>acA	p.T341T		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	341					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGACTGTGTATGCCT	0.363000													29	133					0	0	0.064281	0	0
AKAP13	11214	broad.mit.edu	37	15	86077002	86077002	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:86077002A>T	ENST00000394518.2	+	4	464	c.369A>T	c.(367-369)ggA>ggT	p.G123G	AKAP13_ENST00000560302.1_Silent_p.G123G|AKAP13_ENST00000361243.2_Silent_p.G123G	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	123					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACCAGTCAGGACCCCCATCTG	0.498000													14	92					0	0	0.132662	0	0
CSPP1	79848	broad.mit.edu	37	8	68030981	68030981	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:68030981G>T	ENST00000262210.5	+	13	1638	c.1607G>T	c.(1606-1608)gGt>gTt	p.G536V	CSPP1_ENST00000412460.1_Missense_Mutation_p.G242V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	571	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTTTAAGATGGTTCAGGAATG	0.313000													12	34					2.80697e-09	4.38123e-09	0.080935	1	0
ARPP21	10777	broad.mit.edu	37	3	35780931	35780931	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:35780931G>T	ENST00000187397.4	+	17	2223	c.1767G>T	c.(1765-1767)caG>caT	p.Q589H	ARPP21_ENST00000444190.1_Missense_Mutation_p.Q570H|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q570H|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q590H|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q590H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	589	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGGCCCAGCAGCCCAGCTATG	0.632000													7	45					2.17888e-05	2.83047e-05	0.058154	1	0
ANKS1B	56899	broad.mit.edu	37	12	99548216	99548216	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:99548216C>A	ENST00000550693.2	-	1	308	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	ANKS1B_ENST00000546960.1_Missense_Mutation_p.G19C|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G19C|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G19C|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G19C|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G19C	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AGGGAGTAGCCGTCCACGGGG	0.547000													70	179					2.23399e-28	4.36693e-28	0.139131	1	0
TTBK1	84630	broad.mit.edu	37	6	43226905	43226905	+	Silent	SNP	G	G	C	rs55908453		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:43226905G>C	ENST00000259750.4	+	11	1229	c.1146G>C	c.(1144-1146)ctG>ctC	p.L382L	TTBK1_ENST00000304139.5_Silent_p.L331L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	382						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTGAGGGGCTGGGCCCCAGTC	0.632000													7	19					0	0	0.047766	0	0
KRT24	192666	broad.mit.edu	37	17	38859498	38859498	+	Missense_Mutation	SNP	G	G	T	rs146935622	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:38859498G>T	ENST00000264651.2	-	1	504	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	150	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R150C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTGGCCAAGCGGTCATTGAGG	0.522000													19	238					1.33834e-09	2.12119e-09	0.043863	1	0
IGLV5-45	28781	broad.mit.edu	37	22	22730646	22730646	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:22730646C>A	ENST00000390296.2	+	0	169																											GCAGTGGCATCAATGTTGGTA	0.552000													6	116					0.000274275	0.000326821	0.047766	1	0
NELL2	4753	broad.mit.edu	37	12	45169837	45169837	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:45169837A>T	ENST00000429094.2	-	8	1363	c.859T>A	c.(859-861)Tgg>Agg	p.W287R	NELL2_ENST00000333837.4_Missense_Mutation_p.W310R|NELL2_ENST00000551601.1_Missense_Mutation_p.W286R|NELL2_ENST00000437801.2_Missense_Mutation_p.W337R|NELL2_ENST00000395487.2_Missense_Mutation_p.W286R|NELL2_ENST00000452445.2_Missense_Mutation_p.W287R|NELL2_ENST00000549027.1_Missense_Mutation_p.W286R	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	287	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCGTCTATCCAGGACTCAAAT	0.433000													12	41					0	0	0.119110	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912645	77912645	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:77912645C>T	ENST00000321110.1	-	2	1568	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	425							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CAGTTGATTGCAGCCTGCATA	0.517000													4	38					0	0	0.021553	0	0
ABCA13	154664	broad.mit.edu	37	7	48416091	48416091	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:48416091G>T	ENST00000435803.1	+	35	11281	c.11257G>T	c.(11257-11259)Ggc>Tgc	p.G3753C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3753					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATGACATTTGGCTGGGTTTG	0.398000													154	107					4.00449e-77	8.07785e-77	0.139131	1	0
ZNF658	26149	broad.mit.edu	37	9	40773252	40773252	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:40773252C>A	ENST00000602553.1	-	5	2317	c.2023G>T	c.(2023-2025)Gca>Tca	p.A675S	ZNF658_ENST00000377626.3_Missense_Mutation_p.A675S|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCTGATGTGCTCTCAGGGCT	0.398000													19	132					7.87624e-14	1.41497e-13	0.076483	1	0
CPN1	1369	broad.mit.edu	37	10	101808538	101808538	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:101808538C>T	ENST00000370418.3	-	8	1458	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	403					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCAGGACCCACGGTCACAGTT	0.512000													12	114					0	0	0.105934	0	0
CLCA4	22802	broad.mit.edu	37	1	87029453	87029453	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:87029453G>T	ENST00000370563.3	+	4	599		c.e4+1		CLCA4_ENST00000263723.5_Splice_Site	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4							apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAGCAACAAGGCATGGCTATT	0.378000													8	34					7.48243e-07	1.0519e-06	0.058154	1	0
KCNK5	8645	broad.mit.edu	37	6	39158990	39158990	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:39158990C>A	ENST00000359534.3	-	5	1514	c.1176G>T	c.(1174-1176)atG>atT	p.M392I		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	392					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCAGCTGGTTCATGAACACCT	0.617000													4	24					0.00024832	0.00029937	0.009096	1	0
MIRLET7E	406887	broad.mit.edu	37	19	52196437	52196437	+	RNA	SNP	A	A	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:52196437A>C	ENST00000602324.1	-	0	272					NR_029482.1|NR_029693.1																						tctggctctcagaatgtctct	0.527000													2	4					0	0	0.115264	0	0
IRX6	79190	broad.mit.edu	37	16	55363004	55363004	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:55363004A>T	ENST00000290552.7	+	5	2446	c.1114A>T	c.(1114-1116)Agg>Tgg	p.R372W	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	372						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGCCCGGCCTAGGCCACGAAG	0.637000													8	31					0	0	0.047766	0	0
DIP2C	22982	broad.mit.edu	37	10	375378	375378	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:375378G>A	ENST00000280886.6	-	30	3835	c.3748C>T	c.(3748-3750)Ctc>Ttc	p.L1250F		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1250						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTTACCTTGAGGGACTCTGTT	0.552000													4	21					0	0	0.014758	0	0
ZNF226	7769	broad.mit.edu	37	19	44681152	44681152	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:44681152G>T	ENST00000590089.1	+	7	2104	c.1737G>T	c.(1735-1737)ctG>ctT	p.L579L	ZNF226_ENST00000337433.5_Silent_p.L579L|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.L579L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TTCACCAGCTGATCCATACGG	0.448000													30	163					7.16026e-08	1.06496e-07	0.050027	1	0
FAIM2	23017	broad.mit.edu	37	12	50281194	50281194	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:50281194G>T	ENST00000320634.3	-	11	870	c.776C>A	c.(775-777)gCa>gAa	p.A259E	FAIM2_ENST00000550890.1_Missense_Mutation_p.A213E	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	259					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CGCTCCCAGTGCTGCATAAAC	0.587000													6	48					0.00198382	0.00225272	0.029380	1	0
SLC18A2	6571	broad.mit.edu	37	10	119026324	119026324	+	Splice_Site	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:119026324T>A	ENST00000298472.5	+	11	1213		c.e11+2		SLC18A2_ENST00000497497.1_Splice_Site	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AATGGGGAGGTAAGATGATAT	0.338000													17	147					0	0	0.146539	0	0
FERMT3	83706	broad.mit.edu	37	11	63987463	63987463	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:63987463C>A	ENST00000279227.5	+	10	1287	c.1192C>A	c.(1192-1194)Ccc>Acc	p.P398T	FERMT3_ENST00000345728.5_Missense_Mutation_p.P394T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	398	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCCTGGGGACCCCATTCAGCA	0.637000													6	22					0.000157383	0.000192853	0.038147	1	0
LAG3	3902	broad.mit.edu	37	12	6886480	6886480	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:6886480G>C	ENST00000203629.2	+	6	1441	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	370	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCTGCTTTGTGAGGTGACTCC	0.537000													54	106					0	0	0.139131	0	0
ZEB1	6935	broad.mit.edu	37	10	31813004	31813004	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:31813004G>A	ENST00000446923.2	+	8	3088	c.2697G>A	c.(2695-2697)aaG>aaA	p.K899K	ZEB1_ENST00000560721.2_Silent_p.K895K|ZEB1_ENST00000320985.10_Silent_p.K915K|ZEB1_ENST00000542815.3_Silent_p.K848K|ZEB1_ENST00000361642.5_Silent_p.K916K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	915					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TATTCCAAAAGAGTAGTTCAT	0.348000													10	99					0	0	0.093190	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927566	92927566	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:92927566A>T	ENST00000373079.3	-	1	1001	c.738T>A	c.(736-738)ccT>ccA	p.P246P	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	246	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CTTTTACTTCAGGGGTTGCCT	0.433000													7	61					0	0	0.038147	0	0
FGF13	2258	broad.mit.edu	37	X	137793049	137793049	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:137793049G>T	ENST00000315930.6	-	1	778	c.117C>A	c.(115-117)gaC>gaA	p.D39E	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	39					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ACTTGTTTTTGTCGCAGCTGG	0.547000													12	71					0.000219431	0.000268085	0.119110	1	0
OR4K15	81127	broad.mit.edu	37	14	20443997	20443997	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:20443997C>T	ENST00000305051.5	+	1	395	c.320C>T	c.(319-321)gCa>gTa	p.A107V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAAATGATTGCAGACTTTCTG	0.453000													27	134					0	0	0.108266	0	0
COBL	23242	broad.mit.edu	37	7	51097085	51097085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:51097085C>A	ENST00000395542.2	-	12	2138	c.1954G>T	c.(1954-1956)Gag>Tag	p.E652*	COBL_ENST00000265136.7_Nonsense_Mutation_p.E570*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	570										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAACACCCTCCGAGTCGAAA	0.537000													52	23					1.08114e-33	2.14919e-33	0.139131	1	0
KLF7	8609	broad.mit.edu	37	2	207988804	207988804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:207988804C>A	ENST00000309446.6	-	2	803	c.427G>T	c.(427-429)Gag>Tag	p.E143*	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000423015.1_Nonsense_Mutation_p.E143*|KLF7_ENST00000412414.2_Nonsense_Mutation_p.E115*|KLF7_ENST00000421199.1_Nonsense_Mutation_p.E110*|KLF7_ENST00000458272.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	143					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CGGCTGAGCTCAGGGGACGAT	0.597000													8	71					6.40141e-05	8.04833e-05	0.080935	1	0
PTPRS	5802	broad.mit.edu	37	19	5207955	5207955	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:5207955C>A	ENST00000372412.4	-	37	5992	c.5759G>T	c.(5758-5760)cGg>cTg	p.R1920L	PTPRS_ENST00000592099.1_Missense_Mutation_p.R1472L|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1881L|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1919L|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1919L|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1472L|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1881L|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1899L|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1919	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1919Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CATGGCCGGCCGCTGGGTTCG	0.607000													11	52					4.3838e-07	6.21606e-07	0.105934	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77355081	77355081	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:77355081C>T	ENST00000282849.5	-	15	2600	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	728	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GAGCCTAGTTCATGATCACAT	0.398000													21	106					0	0	0.055883	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107400	60107400	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:60107400C>G	ENST00000300182.4	+	3	481	c.416C>G	c.(415-417)gCt>gGt	p.A139G		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	139						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTGCTCACTGCTGTGCTGCAG	0.483000													22	283					0	0	0.091800	0	0
SEMA5A	9037	broad.mit.edu	37	5	9202068	9202068	+	Splice_Site	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:9202068C>T	ENST00000382496.5	-	9	1596	c.932_splice	c.e9+1	p.V311_splice		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	311	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				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						GTTACATACACATTGGTGGTA	0.398000													9	99					0	0	0.069234	0	0
HECW1	23072	broad.mit.edu	37	7	43482219	43482219	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:43482219A>T	ENST00000395891.1	+	10	1641	c.1036A>T	c.(1036-1038)Atc>Ttc	p.I346F	HECW1_ENST00000453890.1_Missense_Mutation_p.I346F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	346					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						CACTTCCTCCATCCACCCAGG	0.453000													3	20					0	0	0.115264	0	0
ENPP1	5167	broad.mit.edu	37	6	132182763	132182763	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:132182763T>A	ENST00000360971.2	+	9	964	c.944T>A	c.(943-945)cTc>cAc	p.L315H		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	315	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATCAAGGCCTCAAGTCTGGC	0.353000													6	61					0	0	0.038147	0	0
GMEB1	10691	broad.mit.edu	37	1	29037128	29037128	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:29037128A>T	ENST00000373816.1	+	9	1103	c.965A>T	c.(964-966)gAa>gTa	p.E322V	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Missense_Mutation_p.E322V|GMEB1_ENST00000294409.2_Missense_Mutation_p.E332V	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCAGGGAGAAGAACAGTTT	0.393000													8	81					0	0	0.047766	0	0
GPR142	350383	broad.mit.edu	37	17	72363784	72363784	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:72363784A>T	ENST00000335666.4	+	1	188	c.140A>T	c.(139-141)cAt>cTt	p.H47L		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	47						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AAAAGCCAGCATTCTTGTCTC	0.547000													8	29					0	0	0.038147	0	0
FAT4	79633	broad.mit.edu	37	4	126370417	126370417	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:126370417G>T	ENST00000394329.3	+	9	8259	c.8246G>T	c.(8245-8247)gGg>gTg	p.G2749V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1047V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2749	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGACAAAGGGTCCCCGTCT	0.373000													14	79					2.61681e-11	4.35782e-11	0.119110	1	0
FSHR	2492	broad.mit.edu	37	2	49190243	49190243	+	Missense_Mutation	SNP	G	G	C	rs121909660		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:49190243G>C	ENST00000406846.2	-	10	1836	c.1717C>G	c.(1717-1719)Cgc>Ggc	p.R573G	FSHR_ENST00000346173.3_Missense_Mutation_p.R511G|FSHR_ENST00000541117.1_Missense_Mutation_p.R309G|FSHR_ENST00000304421.4_Missense_Mutation_p.R547G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	573			R -> C (in ODG1; alters signal transduction of the receptor; adenylate cyclase stimulation by FSH is 24 +-4% residual activity).		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ATGGCCATGCGCTTGGCGATC	0.537000									Gonadal Dysgenesis, 46 XX				7	77					0	0	0.029380	0	0
SDK1	221935	broad.mit.edu	37	7	4198109	4198109	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:4198109G>T	ENST00000404826.2	+	31	4794	c.4655G>T	c.(4654-4656)cGc>cTc	p.R1552L	SDK1_ENST00000389531.3_Missense_Mutation_p.R1552L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1552	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACAAGCTGCGCCTGAAAGCC	0.622000													9	67					3.09899e-07	4.42481e-07	0.047766	1	0
OR1C1	26188	broad.mit.edu	37	1	247920915	247920915	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:247920915G>A	ENST00000408896.2	-	1	1067	c.794C>T	c.(793-795)cCc>cTc	p.P265L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGCATATGGGGGGATGAAGG	0.517000													46	123					0	0	0.131918	0	0
PRG2	5553	broad.mit.edu	37	11	57156661	57156661	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:57156661C>A	ENST00000311862.5	-	3	261	c.188G>T	c.(187-189)gGa>gTa	p.G63V	RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.G168V|PRG2_ENST00000533605.1_Missense_Mutation_p.G63V|PRG2_ENST00000525955.1_Missense_Mutation_p.G63V	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)		ATCTTCACTTCCAGAGCCCCA	0.542000													13	114					0.000219431	0.000268085	0.119110	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332441	22332441	+	RNA	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:22332441A>T	ENST00000558896.1	+	0	248																											ACGTGACAGAACTTGTTCTTC	0.353000													22	162					0	0	0.062417	0	0
LRP1	4035	broad.mit.edu	37	12	57552240	57552240	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:57552240G>T	ENST00000243077.3	+	11	2083	c.1617G>T	c.(1615-1617)cgG>cgT	p.R539R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	539					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			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)	GCATCATCCGGGGCATGGATA	0.597000													11	80					9.05144e-12	1.53221e-11	0.105934	1	0
HGF	3082	broad.mit.edu	37	7	81374430	81374430	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:81374430C>A	ENST00000222390.5	-	6	858	c.632G>T	c.(631-633)tGc>tTc	p.C211F	HGF_ENST00000457544.2_Missense_Mutation_p.C206F|HGF_ENST00000444829.2_Missense_Mutation_p.C211F|HGF_ENST00000453411.1_Missense_Mutation_p.C206F	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	211	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCAGGTCATGCATTCAACTAA	0.403000													15	57					4.93089e-13	8.68726e-13	0.119110	1	0
VANGL2	57216	broad.mit.edu	37	1	160385651	160385651	+	Silent	SNP	G	G	T	rs138071353		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:160385651G>T	ENST00000368061.2	+	2	498	c.24G>T	c.(22-24)tcG>tcT	p.S8S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	8					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGTACTCGGGCTATTCCT	0.682000													5	47					0.014758	0.0158176	0.014758	1	0
TP53BP1	7158	broad.mit.edu	37	15	43712550	43712550	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:43712550A>T	ENST00000263801.3	-	21	4871	c.4619T>A	c.(4618-4620)cTg>cAg	p.L1540Q	TP53BP1_ENST00000382039.3_Missense_Mutation_p.L1495Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L1545Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L1545Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1540					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCAGTGTCCAGCGGGATGGG	0.458000								Other conserved DNA damage response genes					78	420					0	0	0.139131	0	0
TEX15	56154	broad.mit.edu	37	8	30703672	30703672	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:30703672C>T	ENST00000256246.2	-	1	2936	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	954										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGAGAAACACTCAGATGAGT	0.353000													6	73					0	0	0.038147	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072906	15072906	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:15072906G>T	ENST00000598504.1	-	8	2202	c.843C>A	c.(841-843)gtC>gtA	p.V281V	SLC1A6_ENST00000600144.1_Silent_p.V281V|SLC1A6_ENST00000430939.2_Silent_p.V217V|SLC1A6_ENST00000221742.3_Silent_p.V281V|SLC1A6_ENST00000544886.2_Silent_p.V281V	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	281					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCCACCAATGACCAGCCCAA	0.562000													22	206					1.64293e-13	2.92592e-13	0.083992	1	0
OTUD6B	51633	broad.mit.edu	37	8	92090719	92090719	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:92090719C>G	ENST00000285420.4	+	4	640	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	OTUD6B_ENST00000404789.3_Missense_Mutation_p.Q50E	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AGAAATTAAACAGATTCCATC	0.408000													7	23					0	0	0.029380	0	0
GRIK5	2901	broad.mit.edu	37	19	42566721	42566721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:42566721C>A	ENST00000262895.3	-	4	426	c.427G>T	c.(427-429)Gag>Tag	p.E143*	GRIK5_ENST00000301218.4_Nonsense_Mutation_p.E143*|GRIK5_ENST00000593562.1_Nonsense_Mutation_p.E143*	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	143						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTGACGTCCTCGTTACTGGGG	0.587000													7	73					5.18039e-06	6.96089e-06	0.038147	1	0
ZZZ3	26009	broad.mit.edu	37	1	78097874	78097874	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:78097874C>A	ENST00000370801.3	-	5	1641	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GGGACTACCTCTGGTAGGGGC	0.403000													7	89					3.09899e-07	4.42481e-07	0.047766	1	0
DMRT3	58524	broad.mit.edu	37	9	990261	990261	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:990261G>A	ENST00000190165.2	+	2	713	c.675G>A	c.(673-675)gcG>gcA	p.A225A		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	225					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGTCACGCGGAGCAGAATC	0.567000													5	32					0	0	0.021553	0	0
CLIC6	54102	broad.mit.edu	37	21	36080997	36080997	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:36080997G>T	ENST00000360731.3	+	5	1664		c.e5-1		CLIC6_ENST00000349499.2_Splice_Site			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6							chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						AACTTTTCAAGGTATCCCAAG	0.388000													7	38					0.00307968	0.00346834	0.038147	1	0
ANKRD22	118932	broad.mit.edu	37	10	90582699	90582699	+	Nonstop_Mutation	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:90582699T>G	ENST00000371930.4	-	6	785	c.575A>C	c.(574-576)tAa>tCa	p.*192S	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	0										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TCACAAGGATTACAATGCTTT	0.403000													21	132					0	0	0.062417	0	0
CSMD3	114788	broad.mit.edu	37	8	113933900	113933900	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:113933900G>C	ENST00000297405.5	-	10	1833	c.1589C>G	c.(1588-1590)gCt>gGt	p.A530G	CSMD3_ENST00000343508.3_Missense_Mutation_p.A490G|CSMD3_ENST00000455883.2_Missense_Mutation_p.A426G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A530G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	530	Sushi 2.					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						AAAAACTTCAGCTATCCGTTG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	174					0	0	0.119110	0	0
COL11A1	1301	broad.mit.edu	37	1	103345238	103345238	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:103345238C>A	ENST00000358392.2	-	66	5628		c.e66+1		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.?(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTATACTCACCGCACAACCA	0.428000													3	28					0.004672	0.00518339	0.115264	1	0
CNTN1	1272	broad.mit.edu	37	12	41316172	41316172	+	Silent	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:41316172T>C	ENST00000551295.2	+	5	459	c.342T>C	c.(340-342)tgT>tgC	p.C114C	CNTN1_ENST00000347616.1_Silent_p.C114C|CNTN1_ENST00000348761.2_Silent_p.C103C|CNTN1_ENST00000547702.1_Silent_p.C114C|CNTN1_ENST00000547849.1_Silent_p.C114C|CNTN1_ENST00000360099.3_Silent_p.C114C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	114	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TATACTACTGTTTAGCATCTA	0.408000													14	130					0	0	0.132662	0	0
TTN	7273	broad.mit.edu	37	2	179416929	179416929	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:179416929C>T	ENST00000589042.1	-	335	90922	c.90698G>A	c.(90697-90699)cGa>cAa	p.R30233Q	TTN_ENST00000460472.2_Missense_Mutation_p.R21168Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21293Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21360Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R28592Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27665Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28592	Fibronectin type-III 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTCATCAAATCGAATGGGTCC	0.438000													12	187					0	0	0.105934	0	0
RAG1	5896	broad.mit.edu	37	11	36594898	36594898	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:36594898C>T	ENST00000299440.5	+	2	156	c.44C>T	c.(43-45)cCa>cTa	p.P15L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	15	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGTTCTGCCCCAGATGAAATT	0.423000									Familial Hemophagocytic Lymphohistiocytosis				10	81					0	0	0.069234	0	0
GRIK1	2897	broad.mit.edu	37	21	30959722	30959722	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:30959722C>A	ENST00000399914.1	-	11	2233	c.1712G>T	c.(1711-1713)tGc>tTc	p.C571F	GRIK1_ENST00000327783.4_Missense_Mutation_p.C586F|GRIK1_ENST00000399907.1_Missense_Mutation_p.C586F|GRIK1_ENST00000535441.1_Missense_Mutation_p.C588F|GRIK1_ENST00000389124.2_Missense_Mutation_p.C586F|GRIK1_ENST00000389125.3_Missense_Mutation_p.C571F|GRIK1_ENST00000309434.7_Missense_Mutation_p.C588F|GRIK1_ENST00000399909.1_Missense_Mutation_p.C571F|GRIK1_ENST00000399913.1_Missense_Mutation_p.C586F			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	586					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GACTCCCAAGCAGGCTAAGAG	0.463000													12	52					5.50884e-06	7.35407e-06	0.093190	1	0
CHRM2	1129	broad.mit.edu	37	7	136700125	136700125	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:136700125G>T	ENST00000445907.2	+	3	1041	c.513G>T	c.(511-513)gtG>gtT	p.V171V	CHRM2_ENST00000397608.3_Silent_p.V171V|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V171V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.V171V|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Silent_p.V171V|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Silent_p.V171V|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	171					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGAGAACTGTGGAGGATGGGG	0.493000													45	106					1.86633e-21	3.55513e-21	0.139131	1	0
ABCC5	10057	broad.mit.edu	37	3	183689445	183689445	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:183689445C>A	ENST00000334444.6	-	11	1907	c.1667G>T	c.(1666-1668)cGg>cTg	p.R556L	ABCC5_ENST00000265586.6_Missense_Mutation_p.R556L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	556						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGACTGGGCCGCTCGTCACT	0.597000													14	31					1.15088e-07	1.67234e-07	0.146539	1	0
FAM47A	158724	broad.mit.edu	37	X	34148422	34148422	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:34148422C>A	ENST00000346193.3	-	1	2025	c.1974G>T	c.(1972-1974)atG>atT	p.M658I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	658										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CATCTAGCTCCATGCTGTACT	0.443000													10	77					1.33987e-11	2.24956e-11	0.069234	1	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986187	31986187	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:31986187G>T	ENST00000329122.2	-	1	62	c.37C>A	c.(37-39)Cct>Act	p.P13T		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	13						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						CCATAGCCAGGGGTGCCATAG	0.562000													5	145					0.00448238	0.00501367	0.047766	1	0
KIF2B	84643	broad.mit.edu	37	17	51901063	51901063	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:51901063C>T	ENST00000268919.4	+	1	825	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	223	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L223L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCGGCCTCTCAACCAGCGAG	0.552000													12	50					0	0	0.093190	0	0
FLG	2312	broad.mit.edu	37	1	152280056	152280056	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:152280056C>T	ENST00000368799.1	-	3	7341	c.7306G>A	c.(7306-7308)Gga>Aga	p.G2436R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2436	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCTTCCTCCAGTGCTGGTC	0.597000									Ichthyosis				47	175					0	0	0.139131	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030768	21030768	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:21030768A>T	ENST00000381545.3	+	10	1252	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T345S|LST3_ENST00000540229.1_Missense_Mutation_p.T345S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T345S|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	345					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCTGCTTTTGACATTGTTACA	0.308000													20	58					0	0	0.076483	0	0
INVS	27130	broad.mit.edu	37	9	102988411	102988411	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:102988411A>T	ENST00000262457.2	+	4	526	c.341A>T	c.(340-342)gAg>gTg	p.E114V	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.E114V|INVS_ENST00000541287.1_Missense_Mutation_p.E18V	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	114					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GATCTGGAAGAGATGACTCCT	0.413000													7	19					0	0	0.029380	0	0
GABRB3	2562	broad.mit.edu	37	15	26825499	26825499	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:26825499G>C	ENST00000541819.2	-	7	919	c.817C>G	c.(817-819)Cgt>Ggt	p.R273G	GABRB3_ENST00000311550.5_Missense_Mutation_p.R217G|GABRB3_ENST00000400188.3_Missense_Mutation_p.R146G|GABRB3_ENST00000299267.4_Missense_Mutation_p.R217G|GABRB3_ENST00000545868.1_Missense_Mutation_p.R132G			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	217					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAGACCAGACGGTGCTCCACG	0.562000													32	119					0	0	0.050027	0	0
PRKD1	5587	broad.mit.edu	37	14	30100229	30100229	+	Splice_Site	SNP	T	T	A	rs149778265		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:30100229T>A	ENST00000331968.5	-	10	1622		c.e10-2		PRKD1_ENST00000415220.2_Splice_Site	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1						cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGAATTTCCTGTGAAAGAAA	0.328000													9	46					0	0	0.069234	0	0
MAG	4099	broad.mit.edu	37	19	35804348	35804348	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:35804348G>T	ENST00000392213.3	+	11	2031	c.1872G>T	c.(1870-1872)cgG>cgT	p.R624R	MAG_ENST00000537831.2_Silent_p.R599R|MAG_ENST00000361922.4_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	624					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			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)			CTGAAATCCGGGTCAAGTGAA	0.627000													4	28					0.00909568	0.00986467	0.009096	1	0
AASS	10157	broad.mit.edu	37	7	121773615	121773615	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:121773615T>C	ENST00000393376.1	-	1	261	c.166A>G	c.(166-168)Aag>Gag	p.K56E	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.K56E			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	56	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCAAGACCTTGTATCCCAGA	0.473000													20	75					0	0	0.099896	0	0
ELTD1	64123	broad.mit.edu	37	1	79387376	79387376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:79387376G>C	ENST00000370742.3	-	9	1242	c.1179C>G	c.(1177-1179)taC>taG	p.Y393*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	393	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTCATTTGAGTATGTCAGCT	0.438000													12	74					0	0	0.080935	0	0
DOCK7	85440	broad.mit.edu	37	1	62939744	62939744	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:62939744C>A	ENST00000251157.5	-	47	6121	c.6088G>T	c.(6088-6090)Gcc>Tcc	p.A2030S	DOCK7_ENST00000340370.5_Missense_Mutation_p.A2010S|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2041	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAACCTGGGCAACTTCCAAA	0.343000													6	42					3.59834e-05	4.59445e-05	0.021553	1	0
PLCB2	5330	broad.mit.edu	37	15	40590490	40590490	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:40590490C>A	ENST00000260402.3	-	11	1338	c.1089G>T	c.(1087-1089)ggG>ggT	p.G363G	PLCB2_ENST00000557821.1_Silent_p.G363G|PLCB2_ENST00000456256.2_Silent_p.G363G	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	363	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGGGGGTTTCCCCTTCCAGC	0.612000													5	36					0.0215528	0.0229505	0.021553	1	0
TBC1D32	221322	broad.mit.edu	37	6	121481242	121481242	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:121481242T>A	ENST00000275159.6	-	25	2809	c.2810A>T	c.(2809-2811)aAt>aTt	p.N937I	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.N896I					TBC1 domain family, member 32																		AGGATATGGATTATCACTCTA	0.313000													6	126					0	0	0.021553	0	0
UPK1B	7348	broad.mit.edu	37	3	118906753	118906753	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:118906753C>G	ENST00000264234.3	+	3	350	c.201C>G	c.(199-201)atC>atG	p.I67M	UPK1B_ENST00000460625.1_Missense_Mutation_p.I67M|UPK1B_ENST00000497685.1_5'UTR	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	67					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TTGTGGGCATCTGCCTCTTCT	0.493000													37	159					0	0	0.069456	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785302	26785302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:26785302G>T	ENST00000376236.4	+	4	597	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	APBB1IP_ENST00000356785.4_Missense_Mutation_p.G48W	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	48					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTACAGTGTGGGGTTTAAAGA	0.338000													7	62					0.00621372	0.00683842	0.058154	1	0
SELE	6401	broad.mit.edu	37	1	169698456	169698456	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:169698456G>A	ENST00000333360.7	-	7	1100	c.961C>T	c.(961-963)Cct>Tct	p.P321S	SELE_ENST00000367782.4_Missense_Mutation_p.P321S|SELE_ENST00000367781.4_Missense_Mutation_p.P321S|SELE_ENST00000367774.1_Missense_Mutation_p.P321S|SELE_ENST00000367775.1_Missense_Mutation_p.P259S|SELE_ENST00000367780.4_Missense_Mutation_p.P259S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.P321S|SELE_ENST00000367777.1_Missense_Mutation_p.P321S|SELE_ENST00000367776.1_Missense_Mutation_p.P321S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	321	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TCTCCAGCAGGGGAATGGCTG	0.527000													5	29					0	0	0.029380	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594521	140594521	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140594521G>A	ENST00000341948.4	+	1	1013	c.826G>A	c.(826-828)Gga>Aga	p.G276R		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		276	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGTCAACGGAGAGATTTC	0.438000													43	183					0	0	0.117977	0	0
DRC1	92749	broad.mit.edu	37	2	26671557	26671557	+	Splice_Site	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:26671557A>T	ENST00000288710.2	+	11	1470		c.e11-1			NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		ACCCAACTGCAGAAGAGGAGG	0.473000													11	24					0	0	0.069234	0	0
OR8K3	219473	broad.mit.edu	37	11	56086563	56086563	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:56086563C>A	ENST00000312711.1	+	1	781	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTACGTGCAGCCCAAGTCCAG	0.438000													6	74					2.62144e-13	4.65845e-13	0.047766	1	0
PDILT	204474	broad.mit.edu	37	16	20410574	20410574	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:20410574C>A	ENST00000302451.4	-	2	297	c.49G>T	c.(49-51)Gct>Tct	p.A17S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	17					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGTGGACAGCAGAGACACAA	0.582000													6	101					0.000157383	0.000192853	0.038147	1	0
COL15A1	1306	broad.mit.edu	37	9	101788230	101788230	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:101788230C>A	ENST00000375001.3	+	16	2448	c.2025C>A	c.(2023-2025)ccC>ccA	p.P675P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	675	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			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)				CCGGCCTTCCCGGGATGAAAG	0.572000													6	23					3.59834e-05	4.59445e-05	0.021553	1	0
OR5H1	26341	broad.mit.edu	37	3	97852075	97852075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:97852075C>A	ENST00000354565.2	+	1	534	c.534C>A	c.(532-534)taC>taA	p.Y178*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATCACATTTACTGTGACACTA	0.318000													11	83					3.27435e-08	4.93256e-08	0.119110	1	0
FBLN5	10516	broad.mit.edu	37	14	92336728	92336728	+	Splice_Site	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:92336728T>A	ENST00000267620.10	-	12	1479	c.1308_splice	c.e12-1	p.Q437_splice	FBLN5_ENST00000556154.1_Splice_Site_p.Q401_splice|FBLN5_ENST00000342058.4_Splice_Site_p.Q396_splice|FBLN5_ENST00000556961.1_5'UTR			Q9UBX5	FBLN5_HUMAN	fibulin 5	396					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGGGCCCGTTTGCTATGGACA	0.597000													9	104					0	0	0.069234	0	0
KCNAB1	7881	broad.mit.edu	37	3	156234078	156234078	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:156234078G>C	ENST00000302490.8	+	11	1702	c.831G>C	c.(829-831)tgG>tgC	p.W277C	KCNAB1_ENST00000389636.5_Missense_Mutation_p.W266C|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.W295C|KCNAB1_ENST00000471742.1_Missense_Mutation_p.W284C|KCNAB1_ENST00000389634.5_Missense_Mutation_p.W248C	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	295						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAATGACATGGTCTCCACTTG	0.448000													6	112					0	0	0.038147	0	0
IPMK	253430	broad.mit.edu	37	10	59955883	59955883	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:59955883C>A	ENST00000373935.3	-	6	1527	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	402						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ATGCTTTAGCCCATAAACATA	0.408000													5	95					0.000602214	0.000702298	0.014758	1	0
SNX13	23161	broad.mit.edu	37	7	17833746	17833746	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:17833746G>A	ENST00000428135.3	-	26	2995	c.2797C>T	c.(2797-2799)Cat>Tat	p.H933Y	SNX13_ENST00000409389.1_3'UTR|SNX13_ENST00000496855.1_5'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	944					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GACCGTGAATGCAGTTTGTTG	0.383000													4	34					0	0	0.009096	0	0
MYH6	4624	broad.mit.edu	37	14	23862642	23862642	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:23862642T>A	ENST00000405093.3	-	23	3084	c.3014A>T	c.(3013-3015)cAt>cTt	p.H1005L	MYH6_ENST00000356287.3_Missense_Mutation_p.H1005L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1005					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCCTGCTGATGGGCCTCTTG	0.517000													9	114					0	0	0.047766	0	0
TP53I3	9540	broad.mit.edu	37	2	24305877	24305877	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:24305877T>G	ENST00000238721.4	-	2	1138	c.284A>C	c.(283-285)cAg>cCg	p.Q95P	TP53I3_ENST00000417886.1_5'UTR|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.Q95P|TP53I3_ENST00000313482.4_Missense_Mutation_p.Q95P|TP53I3_ENST00000407482.1_Missense_Mutation_p.Q95P	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	95					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTACTGAGCCTGGCCCCCACC	0.657000													13	51					0	0	0.093190	0	0
FAN1	22909	broad.mit.edu	37	15	31197225	31197225	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:31197225A>G	ENST00000362065.4	+	2	650	c.359A>G	c.(358-360)gAa>gGa	p.E120G	FAN1_ENST00000565466.1_Missense_Mutation_p.E120G|FAN1_ENST00000561607.1_Missense_Mutation_p.E120G|FAN1_ENST00000561594.1_Missense_Mutation_p.E120G	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	120					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAAAAAGGGAAGTAAAGCAG	0.388000								Direct reversal of damage					6	18					0	0	0.029380	0	0
LCN9	392399	broad.mit.edu	37	9	138557566	138557566	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:138557566G>T	ENST00000277526.3	+	5	443	c.443G>T	c.(442-444)gGc>gTc	p.G148V	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	148						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TACGGACTTGGCTCACAAAAT	0.572000													3	22					0.115264	0.120244	0.115264	1	0
TEX15	56154	broad.mit.edu	37	8	30701798	30701798	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:30701798G>T	ENST00000256246.2	-	1	4810	c.4736C>A	c.(4735-4737)cCt>cAt	p.P1579H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1579										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAGTGGGCAGGTAAAATAGG	0.393000													12	77					1.05317e-09	1.67568e-09	0.119110	1	0
RYR2	6262	broad.mit.edu	37	1	237886437	237886437	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:237886437C>A	ENST00000366574.2	+	74	10881	c.10564C>A	c.(10564-10566)Cct>Act	p.P3522T	RYR2_ENST00000360064.6_Missense_Mutation_p.P3520T|RYR2_ENST00000542537.1_Missense_Mutation_p.P3506T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3522					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			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)			GTTGGAGGATCCTGCTATTAG	0.393000													91	191					4.21773e-46	8.44575e-46	0.139131	1	0
SERPINC1	462	broad.mit.edu	37	1	173879971	173879971	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:173879971C>A	ENST00000367698.3	-	4	801	c.683G>T	c.(682-684)gGc>gTc	p.G228V		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	228					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGTGATTCGGCCTTCGGTCTT	0.478000													6	61					2.7689e-08	4.19421e-08	0.029380	1	0
GAS2L3	283431	broad.mit.edu	37	12	101005919	101005919	+	Splice_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:101005919G>T	ENST00000537247.1	+	6	1087	c.133_splice	c.e6+1	p.V45_splice	GAS2L3_ENST00000266754.5_Splice_Site_p.V149_splice|GAS2L3_ENST00000539410.1_Splice_Site_p.V149_splice|GAS2L3_ENST00000547754.1_Splice_Site_p.V149_splice			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	149					cell cycle arrest					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						TGAAGGTTTAGGTAAGTGATG	0.378000													7	103					2.0095e-06	2.76812e-06	0.029380	1	0
CPNE4	131034	broad.mit.edu	37	3	131388535	131388535	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:131388535G>T	ENST00000512055.1	-	11	2791	c.665C>A	c.(664-666)cCa>cAa	p.P222Q	CPNE4_ENST00000511604.1_Missense_Mutation_p.P222Q|CPNE4_ENST00000429747.1_Missense_Mutation_p.P222Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.P240Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.P240Q			Q96A23	CPNE4_HUMAN	copine IV	222	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCGGCGGTCTGGGTCTCCGCT	0.368000													14	245					3.41278e-10	5.52642e-10	0.033300	1	0
APOB	338	broad.mit.edu	37	2	21229930	21229930	+	Silent	SNP	G	G	A	rs138010392	byFrequency	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:21229930G>A	ENST00000233242.1	-	26	9937	c.9810C>T	c.(9808-9810)ttC>ttT	p.F3270F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3270					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3270F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACATAGCCGAATGCCGACA	0.473000													12	88					0	0	0.093190	0	0
TTC12	54970	broad.mit.edu	37	11	113211455	113211455	+	Splice_Site	SNP	G	G	T	rs142932707		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:113211455G>T	ENST00000393020.1	+	11	1301	c.896_splice	c.e11+1	p.R299_splice	TTC12_ENST00000483239.2_Splice_Site_p.R305_splice|TTC12_ENST00000314756.3_Splice_Site_p.R299_splice|TTC12_ENST00000529221.1_Splice_Site_p.R299_splice			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	299							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GTCATAAGAAGGTAGGGATGT	0.418000													11	82					0.010729	0.0116208	0.080935	1	0
AADACL2	344752	broad.mit.edu	37	3	151474780	151474780	+	Splice_Site	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:151474780G>A	ENST00000356517.3	+	5	713	c.603_splice	c.e5-1	p.V202_splice	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	202						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATATTTTCAGGTGCAGAATGA	0.303000													13	47					0	0	0.093190	0	0
TTN	7273	broad.mit.edu	37	2	179463770	179463770	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:179463770A>T	ENST00000589042.1	-	291	56891	c.56667T>A	c.(56665-56667)gaT>gaA	p.D18889E	TTN_ENST00000460472.2_Missense_Mutation_p.D9824E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9949E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10016E|TTN_ENST00000591111.1_Missense_Mutation_p.D17248E|TTN_ENST00000342992.6_Missense_Mutation_p.D16321E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17248	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CTGTTGGTTTATCTGGTGCTC	0.403000													8	71					0	0	0.038147	0	0
ATP13A3	79572	broad.mit.edu	37	3	194162107	194162107	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:194162107A>T	ENST00000439040.1	-	16	2434	c.1643T>A	c.(1642-1644)cTt>cAt	p.L548H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.L548H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	548					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AATTTTTGTAAGTGAATGACA	0.353000													10	72					0	0	0.069234	0	0
ZNF502	91392	broad.mit.edu	37	3	44762981	44762981	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:44762981A>T	ENST00000296091.4	+	4	928	c.672A>T	c.(670-672)tcA>tcT	p.S224S	ZNF502_ENST00000449836.1_Silent_p.S224S|ZNF502_ENST00000436624.2_Silent_p.S224S	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GATGTCGATCATTTCTTACTC	0.403000													71	174					0	0	0.139131	0	0
IGHV3-20	28445	broad.mit.edu	37	14	106667767	106667767	+	RNA	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:106667767C>A	ENST00000390606.2	-	0	226																											CTTGGCGGACCCAGCTCATGC	0.572000													25	304					9.78306e-22	1.86788e-21	0.144211	1	0
STXBP5L	9515	broad.mit.edu	37	3	120673790	120673790	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:120673790G>T	ENST00000273666.6	+	3	464	c.193G>T	c.(193-195)Gtt>Ttt	p.V65F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V65F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V65F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V65F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V65F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	65					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				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)		CTTTCAGACAGTTCGGCATGG	0.383000													7	79					0.000157383	0.000192853	0.038147	1	0
BARD1	580	broad.mit.edu	37	2	215595145	215595145	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:215595145C>G	ENST00000260947.4	-	10	2125	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T	BARD1_ENST00000432456.1_Missense_Mutation_p.R35T|BARD1_ENST00000449967.2_Missense_Mutation_p.R520T	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	664					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCTGTTCTCTGTTGAGCCT	0.373000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	84					0	0	0.083992	0	0
GP1BA	2811	broad.mit.edu	37	17	4835973	4835973	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:4835973T>C	ENST00000329125.5	+	2	149	c.74T>C	c.(73-75)gTg>gCg	p.V25A		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	25										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GTCTCCAAAGTGGCCAGCCAC	0.582000													66	270					0	0	0.139131	0	0
OR5H15	403274	broad.mit.edu	37	3	97887663	97887663	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:97887663G>A	ENST00000356526.2	+	1	120	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCACCATCATGGGGAATCTTG	0.408000													60	242					0	0	0.139131	0	0
MYCBP2	23077	broad.mit.edu	37	13	77714190	77714190	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:77714190T>A	ENST00000407578.2	-	51	7776	c.7510A>T	c.(7510-7512)Att>Ttt	p.I2504F	MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2466F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2466F|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTCATCAATAAAAGTGATA	0.398000													3	41					0	0	0.115264	0	0
NUP98	4928	broad.mit.edu	37	11	3800112	3800112	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:3800112C>A	ENST00000324932.7	-	4	766	c.346G>T	c.(346-348)Ggc>Tgc	p.G116C	NUP98_ENST00000397004.4_Missense_Mutation_p.G116C|NUP98_ENST00000397007.4_Missense_Mutation_p.G116C|NUP98_ENST00000359171.4_Missense_Mutation_p.G116C|NUP98_ENST00000355260.3_Missense_Mutation_p.G116C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	116	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGCCAAAGCCAGTTGGTTTA	0.413000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								13	69					4.36969e-10	7.03434e-10	0.105934	1	0
IFT172	26160	broad.mit.edu	37	2	27703991	27703991	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:27703991C>A	ENST00000260570.3	-	8	810	c.707G>T	c.(706-708)cGt>cTt	p.R236L	IFT172_ENST00000416524.2_Missense_Mutation_p.R215L|IFT172_ENST00000359466.6_Missense_Mutation_p.R236L	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	236					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGAGGGTCACGGCTATAATC	0.488000													13	142					3.27435e-08	4.93256e-08	0.119110	1	0
OR8J1	219477	broad.mit.edu	37	11	56128382	56128382	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:56128382T>A	ENST00000303039.3	+	1	692	c.660T>A	c.(658-660)aaT>aaA	p.N220K		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTTATTTCAATATTGTTTTGT	0.323000													8	81					0	0	0.038147	0	0
APOB	338	broad.mit.edu	37	2	21232297	21232297	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:21232297C>A	ENST00000233242.1	-	26	7570	c.7443G>T	c.(7441-7443)ctG>ctT	p.L2481L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2481					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAGGCTTTCCAGATACACTG	0.418000													41	182					4.07013e-28	7.93724e-28	0.104719	1	0
WT1	7490	broad.mit.edu	37	11	32413611	32413611	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:32413611C>A	ENST00000332351.3	-	9	1624		c.e9-1		WT1_ENST00000448076.3_Splice_Site|WT1_ENST00000379079.2_Splice_Site|WT1_ENST00000530998.1_Splice_Site	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(3)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGTTTCACACCTAAATGGACA	0.537000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				26	139					9.86323e-18	1.84039e-17	0.091800	1	0
ZNF133	7692	broad.mit.edu	37	20	18296998	18296998	+	Silent	SNP	A	A	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:18296998A>C	ENST00000377671.3	+	7	2059	c.1500A>C	c.(1498-1500)cgA>cgC	p.R500R	ZNF133_ENST00000401790.1_Silent_p.R501R|ZNF133_ENST00000396026.3_Silent_p.R504R|ZNF133_ENST00000538547.1_Silent_p.R406R|ZNF133_ENST00000316358.4_Silent_p.R501R|ZNF133_ENST00000402618.2_Silent_p.R438R|ZNF133_ENST00000535822.1_Silent_p.R406R|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	501						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGTGCGGGCGAGGCTTCAGCC	0.622000													5	100					0	0	0.134883	0	0
GJA1	2697	broad.mit.edu	37	6	121767996	121767996	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:121767996G>T	ENST00000282561.3	+	2	160	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	1					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CAGGCAACATGGGTGACTGGA	0.448000													15	110					1.99824e-07	2.88322e-07	0.033300	1	0
PIGY	84992	broad.mit.edu	37	4	89442811	89442811	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:89442811T>A	ENST00000527353.1	-	1	129	c.130A>T	c.(130-132)Agc>Tgc	p.S44C	HERC3_ENST00000601319.1_3'UTR|PYURF_ENST00000273968.4_3'UTR			Q3MUY2	PIGY_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Y	44					GPI anchor biosynthetic process	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane|plasma membrane							Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAGAGCAGGCTGTAAAAGCAA	0.448000													16	45					0	0	0.049695	0	0
LAX1	54900	broad.mit.edu	37	1	203740013	203740013	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:203740013C>A	ENST00000442561.2	+	2	537	c.147C>A	c.(145-147)ctC>ctA	p.L49L	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.L33L	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	49					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCGCCATCCTCCTGGTCGTTG	0.458000													12	102					4.36969e-10	7.03434e-10	0.105934	1	0
CA3	761	broad.mit.edu	37	8	86357417	86357417	+	Silent	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:86357417C>T	ENST00000285381.2	+	5	560	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	159					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCAGATTTTCCTTGATGCAT	0.328000													4	31					0	0	0.009096	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391091	23391091	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:23391091C>A	ENST00000258729.3	-	6	872	c.516G>T	c.(514-516)cgG>cgT	p.R172R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	172					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GCCCAAGCCCCCGGCGACCTC	0.557000													7	34					2.0095e-06	2.76812e-06	0.029380	1	0
FMN1	342184	broad.mit.edu	37	15	33359067	33359067	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:33359067G>T	ENST00000334528.9	-	1	1018	c.1019C>A	c.(1018-1020)aCt>aAt	p.T340N	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.T340N	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	436	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCAGGAGAGTGGGAGTGGC	0.552000													15	82					2.31682e-05	3.00018e-05	0.132662	1	0
CATSPER1	117144	broad.mit.edu	37	11	65789107	65789107	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:65789107G>T	ENST00000312106.5	-	4	1688	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	517					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGCCATAATGAAGAAGTCTG	0.612000													3	8					6.4e-05	8.04833e-05	0.115264	1	0
CCDC63	160762	broad.mit.edu	37	12	111321896	111321896	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:111321896G>C	ENST00000308208.5	+	8	1158	c.916G>C	c.(916-918)Gcc>Ccc	p.A306P	CCDC63_ENST00000552694.1_Missense_Mutation_p.A227P|CCDC63_ENST00000545036.1_Missense_Mutation_p.A266P	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	306										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTATGAGGTGGCCCACCTCCG	0.488000													9	127					0	0	0.058154	0	0
LIPA	3988	broad.mit.edu	37	10	90974763	90974763	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:90974763C>G	ENST00000336233.5	-	10	1344	c.1022G>C	c.(1021-1023)aGc>aCc	p.S341T	LIPA_ENST00000456827.1_Missense_Mutation_p.S341T|LIPA_ENST00000371837.1_Missense_Mutation_p.S285T			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	341					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GTGACCCCCGCTCCAGACTGC	0.483000													6	64					0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:7578463C>G	ENST00000420246.2	-	5	599	c.467G>C	c.(466-468)cGc>cCc	p.R156P	TP53_ENST00000359597.4_Missense_Mutation_p.R156P|TP53_ENST00000269305.4_Missense_Mutation_p.R156P|TP53_ENST00000455263.2_Missense_Mutation_p.R156P|TP53_ENST00000445888.2_Missense_Mutation_p.R156P|TP53_ENST00000413465.2_Missense_Mutation_p.R156P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	57					0	0	0.069288	0	0
LRRC27	80313	broad.mit.edu	37	10	134175044	134175044	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:134175044C>A	ENST00000368610.3	+	8	1068	c.1068C>A	c.(1066-1068)agC>agA	p.S356R	LRRC27_ENST00000368612.1_Missense_Mutation_p.S356R|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.S418R|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.S418R|LRRC27_ENST00000432555.2_Missense_Mutation_p.S291R			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	418										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TGAAACCAAGCAAAGAGAAAT	0.488000													3	51					0.00024832	0.00029937	0.009096	1	0
LAD1	3898	broad.mit.edu	37	1	201352445	201352445	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:201352445C>A	ENST00000391967.2	-	6	1549	c.1248_splice	c.e6+1	p.R416_splice	LAD1_ENST00000488842.1_5'UTR|LAD1_ENST00000367313.3_Splice_Site_p.R430_splice	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	416						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCCACCCACCCGTATGGCCG	0.592000													47	136					4.17463e-26	8.08342e-26	0.139131	1	0
SDPR	8436	broad.mit.edu	37	2	192711169	192711169	+	Splice_Site	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:192711169C>A	ENST00000304141.4	-	1	812	c.483_splice	c.e1+1	p.Q161_splice		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	161						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGGAACTGACCTGGAAGATGA	0.537000													3	15					0.115264	0.120244	0.115264	1	0
FOXD3	27022	broad.mit.edu	37	1	63789348	63789348	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:63789348G>T	ENST00000371116.2	+	1	619	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207				GNPG -> ATRP (in Ref. 3; AAK13574).	axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCGCGAGCCGGGCAACCCGGG	0.637000													9	72					2.17888e-05	2.83047e-05	0.058154	1	0
ARID1B	57492	broad.mit.edu	37	6	157527833	157527833	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:157527833C>T	ENST00000346085.5	+	20	5559	c.5558C>T	c.(5557-5559)gCa>gTa	p.A1853V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A1835V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A1893V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A1840V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1840					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTAAGCTCCGCAGGTAGAAAG	0.562000													12	58					0	0	0.093190	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797434	7797434	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:7797434G>T	ENST00000303635.7	+	15	3669	c.3462G>T	c.(3460-3462)cgG>cgT	p.R1154R	CAMTA1_ENST00000439411.2_Silent_p.R1154R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCAGGTCACGGGGTCATGTGA	0.577000			T	WWTR1	epitheliod hemangioendothelioma								9	79					2.74318e-10	4.46855e-10	0.058154	1	0
BMS1	9790	broad.mit.edu	37	10	43319113	43319113	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:43319113G>T	ENST00000374518.4	+	21	3400	c.3337G>T	c.(3337-3339)Gta>Tta	p.V1113L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1113					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTATAACCCAGTAACATCTTT	0.448000													16	116					6.31663e-08	9.41189e-08	0.132662	1	0
ZC3H6	376940	broad.mit.edu	37	2	113081964	113081964	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:113081964G>C	ENST00000409871.1	+	10	1977	c.1576G>C	c.(1576-1578)Gta>Cta	p.V526L	ZC3H6_ENST00000343936.4_Missense_Mutation_p.V526L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	526	Pro-rich.						nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCTGAAATTGTAGGTCCTCA	0.547000													15	53					0	0	0.146539	0	0
PTPRB	5787	broad.mit.edu	37	12	70949044	70949044	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:70949044A>T	ENST00000334414.6	-	20	5083	c.5039T>A	c.(5038-5040)gTg>gAg	p.V1680E	PTPRB_ENST00000538708.1_Missense_Mutation_p.V1372E|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1372E|PTPRB_ENST00000261266.5_Missense_Mutation_p.V1462E|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1372E|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1592E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1462					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)			GCTAATTAGCACATCCTTTTC	0.507000													8	113					0	0	0.038147	0	0
COL6A6	131873	broad.mit.edu	37	3	130311915	130311915	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:130311915G>T	ENST00000358511.6	+	15	4413	c.4382G>T	c.(4381-4383)gGg>gTg	p.G1461V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1461V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1461	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGAGAAGTTGGGGAAAATGGA	0.373000													75	342					8.2577e-42	1.64953e-41	0.139131	1	0
RORA	6095	broad.mit.edu	37	15	60803809	60803809	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:60803809C>A	ENST00000335670.6	-	5	536	c.436G>T	c.(436-438)Ggc>Tgc	p.G146C	RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000560004.1_5'UTR|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.G171C|RORA_ENST00000261523.5_Missense_Mutation_p.G179C|RP11-219B17.1_ENST00000559902.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.G91C	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	179					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GACATTCGGCCAAATTTTACA	0.478000													5	70					0.000602214	0.000702298	0.014758	1	0
MARK4	57787	broad.mit.edu	37	19	45783904	45783904	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:45783904A>T	ENST00000300843.4	+	12	1485	c.1188A>T	c.(1186-1188)ggA>ggT	p.G396G	MARK4_ENST00000262891.4_Silent_p.G396G	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	396					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCACCAACGGAACAAGTTCCA	0.642000													9	29					0	0	0.058154	0	0
LSP1	4046	broad.mit.edu	37	11	1904651	1904651	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:1904651C>A	ENST00000406638.2	+	4	1475	c.173C>A	c.(172-174)cCc>cAc	p.P58H	LSP1_ENST00000311604.3_Missense_Mutation_p.P120H|LSP1_ENST00000405957.2_Missense_Mutation_p.P58H|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.P248H	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	120					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		ACCCACAGGCCCGGCCTGCAT	0.562000													6	31					8.12818e-05	0.00010111	0.029380	1	0
SLC26A7	115111	broad.mit.edu	37	8	92330587	92330587	+	Silent	SNP	C	C	A	rs147941350		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:92330587C>A	ENST00000276609.3	+	5	860	c.621C>A	c.(619-621)tcC>tcA	p.S207S	SLC26A7_ENST00000523719.1_Silent_p.S207S|SLC26A7_ENST00000309536.2_Silent_p.S207S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	207						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CATATATATCCGGACCACTTG	0.388000													7	102					0.00307968	0.00346834	0.038147	1	0
LRRC6	23639	broad.mit.edu	37	8	133637539	133637539	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:133637539C>A	ENST00000519595.1	-	6	913	c.815G>T	c.(814-816)cGg>cTg	p.R272L	LRRC6_ENST00000250173.1_Missense_Mutation_p.R272L|LRRC6_ENST00000518642.1_Missense_Mutation_p.R272L|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	272						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTGTTTCTTCCGTTGTTTTTC	0.358000													5	68					1.024e-07	1.51752e-07	0.014758	1	0
CNOT11	55571	broad.mit.edu	37	2	101879006	101879006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:101879006C>T	ENST00000289382.3	+	3	848	c.685C>T	c.(685-687)Caa>Taa	p.Q229*		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		TCCAGAACGCCAATCTGAATT	0.438000													16	92					0	0	0.146539	0	0
MCF2L2	23101	broad.mit.edu	37	3	182910837	182910837	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:182910837C>A	ENST00000328913.3	-	27	3263	c.2966G>T	c.(2965-2967)aGa>aTa	p.R989I	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R989I|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	989					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGTGGTAGCTCTTTCCATATT	0.498000													7	30					0.00307968	0.00346834	0.038147	1	0
RTKN	6242	broad.mit.edu	37	2	74654356	74654356	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:74654356G>A	ENST00000305557.5	-	12	1846	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	RTKN_ENST00000272430.5_Missense_Mutation_p.P434S|RTKN_ENST00000233330.6_Missense_Mutation_p.P384S	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	434					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CGGGGAGCAGGAGTTTCAATT	0.502000													16	129					0	0	0.033300	0	0
ZNF568	374900	broad.mit.edu	37	19	37428074	37428074	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:37428074G>T	ENST00000415168.1	+	4	472	c.96G>T	c.(94-96)gtG>gtT	p.V32V	ZNF568_ENST00000455427.2_Silent_p.V32V|ZNF568_ENST00000333987.7_Silent_p.V96V|ZNF568_ENST00000427117.1_Silent_p.V96V	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCGGATGTGATATTCAAGT	0.458000													6	36					0.0381472	0.0403074	0.038147	1	0
SLC1A3	6507	broad.mit.edu	37	5	36679861	36679861	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:36679861C>A	ENST00000265113.4	+	7	1469	c.993C>A	c.(991-993)atC>atA	p.I331I	SLC1A3_ENST00000381918.3_Silent_p.I331I|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	331					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACGCAGTCATCGTCTTGCCAC	0.507000													51	159					7.05377e-20	1.33436e-19	0.139131	1	0
CPS1	1373	broad.mit.edu	37	2	211460275	211460275	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:211460275A>T	ENST00000233072.5	+	13	1524	c.1328A>T	c.(1327-1329)tAc>tTc	p.Y443F	CPS1_ENST00000430249.2_Missense_Mutation_p.Y449F|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	443					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GAATTTGATTACTCAGGATCT	0.348000													24	120					0	0	0.099896	0	0
HDAC9	9734	broad.mit.edu	37	7	18767315	18767315	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:18767315C>A	ENST00000406451.3	+	13	1985	c.1835C>A	c.(1834-1836)tCc>tAc	p.S612Y	HDAC9_ENST00000441542.2_Missense_Mutation_p.S615Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.S612Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.S571Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	612					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACTCACTCTTCCCCTGCTGCC	0.587000													9	48					0.0692343	0.0729671	0.069234	1	0
EPHA1	2041	broad.mit.edu	37	7	143098639	143098639	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:143098639T>A	ENST00000275815.3	-	3	296	c.210A>T	c.(208-210)ccA>ccT	p.P70P		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	70						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTCCTTGCATTGGGCAGTCCT	0.572000													34	160					0	0	0.098360	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357307	36357307	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:36357307G>T	ENST00000360202.5	+	15	2238	c.2040G>T	c.(2038-2040)ggG>ggT	p.G680G	KIRREL2_ENST00000592409.1_Silent_p.G645G|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000586102.2_Silent_p.G660G|KIRREL2_ENST00000347900.6_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	680	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCCTTTGGGCCCCCAGATC	0.607000													5	42					2.7689e-08	4.19421e-08	0.029380	1	0
AGAP1	116987	broad.mit.edu	37	2	236708124	236708124	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:236708124G>A	ENST00000409538.1	+	8	2206	c.1710G>A	c.(1708-1710)acG>acA	p.T570T	AGAP1_ENST00000428334.2_Silent_p.T144T|AGAP1_ENST00000409457.1_Silent_p.T305T|AGAP1_ENST00000336665.5_Silent_p.T305T|AGAP1_ENST00000304032.7_Silent_p.T305T			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	305	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACACGCCCACGCCCGTTCGCA	0.562000													24	89					0	0	0.116897	0	0
SPAG16	79582	broad.mit.edu	37	2	214794721	214794721	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:214794721G>T	ENST00000331683.5	+	12	1347	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	SPAG16_ENST00000374309.3_Missense_Mutation_p.V324F	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	418					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGACACTACAGTTAAATTATG	0.398000													5	91					0.0215528	0.0229505	0.021553	1	0
IGFL2	147920	broad.mit.edu	37	19	46664088	46664088	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:46664088G>T	ENST00000434646.2	+	4	615	c.324G>T	c.(322-324)caG>caT	p.Q108H	IGFL2_ENST00000377693.4_Missense_Mutation_p.Q97H|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	97						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGAAGGTTCAGGGTGTGAATT	0.557000													22	104					5.26018e-13	9.18852e-13	0.062417	1	0
WDR78	79819	broad.mit.edu	37	1	67299719	67299719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:67299719C>A	ENST00000371026.3	-	12	1901	c.1846G>T	c.(1846-1848)Gga>Tga	p.G616*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.G362*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	616										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GAGATTCTTCCATCTGCTGAT	0.343000													8	67					5.4927e-09	8.52459e-09	0.047766	1	0
SLC5A8	160728	broad.mit.edu	37	12	101603406	101603406	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:101603406G>T	ENST00000536262.2	-	1	779	c.221C>A	c.(220-222)aCc>aAc	p.T74N		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	74					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCGGAGGGGGTGCCCAGGAC	0.597000													9	50					1.08611e-07	1.58947e-07	0.080935	1	0
CAPS2	84698	broad.mit.edu	37	12	75692736	75692736	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:75692736C>A	ENST00000393284.3	-	10	827	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.D308Y|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409799.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	308							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTGCAAGCATCACGTCCATTA	0.318000													5	58					0.000602214	0.000702298	0.014758	1	0
MROH9	80133	broad.mit.edu	37	1	170967493	170967493	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:170967493C>A	ENST00000367758.3	+	15	1773	c.1674C>A	c.(1672-1674)ctC>ctA	p.L558L	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2			maestro heat-like repeat family member 9																		TCCAGTTTCTCGTATCTCTCC	0.388000													12	70					5.50884e-06	7.35407e-06	0.093190	1	0
MYO7B	4648	broad.mit.edu	37	2	128367139	128367139	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:128367139C>A	ENST00000389524.4	+	23	2926	c.2873C>A	c.(2872-2874)gCg>gAg	p.A958E	MYO7B_ENST00000428314.1_Missense_Mutation_p.A958E|MYO7B_ENST00000409816.2_Missense_Mutation_p.A958E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	958						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		GTCCCCATGGCGGAGGAGCCT	0.572000													3	22					0.00909568	0.00986467	0.009096	1	0
ZNF317	57693	broad.mit.edu	37	19	9271828	9271828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:9271828G>T	ENST00000247956.6	+	7	1812	c.1507G>T	c.(1507-1509)Gag>Tag	p.E503*	ZNF317_ENST00000360385.3_Nonsense_Mutation_p.E471*	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GAAACGAGTTGAGTGTAGGCA	0.557000													15	68					0.000422831	0.00050238	0.146539	1	0
BMP10	27302	broad.mit.edu	37	2	69092908	69092908	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:69092908T>A	ENST00000295379.1	-	2	1288	c.1130A>T	c.(1129-1131)cAc>cTc	p.H377L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	377					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			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						ATTCTTGAGGTGGACCAAGGC	0.517000													29	146					0	0	0.045705	0	0
NFASC	23114	broad.mit.edu	37	1	204924001	204924001	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:204924001C>A	ENST00000367172.4	+	7	785	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K	NFASC_ENST00000404907.1_Missense_Mutation_p.Q147K|NFASC_ENST00000404076.1_Missense_Mutation_p.Q147K|NFASC_ENST00000539706.1_Missense_Mutation_p.Q147K|NFASC_ENST00000360049.4_Missense_Mutation_p.Q147K|NFASC_ENST00000403080.1_Missense_Mutation_p.Q153K|NFASC_ENST00000367171.4_Missense_Mutation_p.Q153K|NFASC_ENST00000367170.4_Missense_Mutation_p.Q153K|NFASC_ENST00000401399.1_Missense_Mutation_p.Q153K|NFASC_ENST00000338586.6_Missense_Mutation_p.Q153K|NFASC_ENST00000513543.1_Missense_Mutation_p.Q147K|NFASC_ENST00000338515.6_Missense_Mutation_p.Q153K|NFASC_ENST00000339876.6_Missense_Mutation_p.Q153K|NFASC_ENST00000367169.4_Missense_Mutation_p.Q153K			O94856	NFASC_HUMAN	neurofascin	153	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGTCGTGGTCCAAGAGGGCGC	0.592000													18	234					4.96729e-08	7.44187e-08	0.049695	1	0
UBXN4	23190	broad.mit.edu	37	2	136536527	136536527	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:136536527A>T	ENST00000272638.9	+	11	1374	c.1063A>T	c.(1063-1065)Aac>Tac	p.N355Y	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	355	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GACTGTTGGCAACACTTACGG	0.333000													8	39					0	0	0.038147	0	0
FMO2	2327	broad.mit.edu	37	1	171168556	171168556	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:171168556C>T	ENST00000441535.1	+	5	673	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R186C|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	186					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGGGAAAACGCATCCTGGT	0.473000													7	108					0	0	0.080935	0	0
SMYD3	64754	broad.mit.edu	37	1	246021924	246021924	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:246021924G>A	ENST00000490107.1	-	10	989	c.773C>T	c.(772-774)tCt>tTt	p.S258F	SMYD3_ENST00000541742.1_Missense_Mutation_p.S258F|SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.S317F	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	317						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		AAGCCGTTCAGAATTGCTGCT	0.468000													12	193					0	0	0.105934	0	0
CCDC63	160762	broad.mit.edu	37	12	111317818	111317818	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:111317818C>A	ENST00000308208.5	+	6	840	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	CCDC63_ENST00000552694.1_Missense_Mutation_p.Q121K|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.Q160K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	200										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCAGCAGCTCCAGCACTGCCT	0.507000													10	93					0.000673444	0.000783141	0.069234	1	0
STMN4	81551	broad.mit.edu	37	8	27098753	27098753	+	Missense_Mutation	SNP	C	C	A	rs143115752		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:27098753C>A	ENST00000350889.4	-	5	330	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	STMN4_ENST00000519614.1_Missense_Mutation_p.V46F|STMN4_ENST00000519997.1_Missense_Mutation_p.V37F|STMN4_ENST00000522908.1_Missense_Mutation_p.V73F|STMN4_ENST00000265770.7_Missense_Mutation_p.V46F|STMN4_ENST00000523048.1_Missense_Mutation_p.V73F	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	46					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		TCGGAAATGACGCACCAATTC	0.557000													9	64					1.61879e-10	2.66338e-10	0.093190	1	0
TSPAN2	10100	broad.mit.edu	37	1	115596060	115596060	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:115596060G>T	ENST00000369516.2	-	7	571	c.540C>A	c.(538-540)acC>acA	p.T180T	TSPAN2_ENST00000369514.2_Intron|TSPAN2_ENST00000369515.2_Silent_p.T155T|TSPAN2_ENST00000491992.1_5'UTR	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	180						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CACTGATTATGGTCTCAATTT	0.388000													11	102					3.86212e-05	4.90836e-05	0.069234	1	0
TMEM39B	55116	broad.mit.edu	37	1	32542848	32542848	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:32542848G>T	ENST00000427288.1	+	6	654	c.174G>T	c.(172-174)tgG>tgT	p.W58C	TMEM39B_ENST00000336294.5_Missense_Mutation_p.W173C|TMEM39B_ENST00000456834.2_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	173						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAACAGGCTGGAGTCTGTGCC	0.587000													12	129					3.07112e-06	4.18141e-06	0.080935	1	0
F13A1	2162	broad.mit.edu	37	6	6175065	6175065	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:6175065G>T	ENST00000264870.3	-	12	1760	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	499					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCGTACATCAGGGCAGTTTCT	0.448000													7	37					0.000274275	0.000326821	0.047766	1	0
OR4D11	219986	broad.mit.edu	37	11	59271537	59271537	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:59271537G>T	ENST00000313253.1	+	1	489	c.489G>T	c.(487-489)ttG>ttT	p.L163F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TCTCCCTGTTGCTGCCTCTCC	0.522000													15	101					3.52763e-06	4.79501e-06	0.033300	1	0
XIRP2	129446	broad.mit.edu	37	2	168102547	168102547	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:168102547G>T	ENST00000409195.1	+	9	4734	c.4645G>T	c.(4645-4647)Ggc>Tgc	p.G1549C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1327C|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1549C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1374					actin cytoskeleton organization	cell junction	actin binding			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						AGAAATTATTGGCAAGAGCAT	0.363000													11	185					4.68919e-08	7.05096e-08	0.069234	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746033	77746033	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:77746033G>T	ENST00000409088.3	-	3	1376	c.962C>A	c.(961-963)cCt>cAt	p.P321H	LRRTM4_ENST00000409093.1_Missense_Mutation_p.P321H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P322H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P321H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P322H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	321	LRRCT.					integral to membrane				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)		ATAAAATAAAGGACAAATGCT	0.403000													8	14					1.12685e-05	1.48977e-05	0.047766	1	0
PHEX	5251	broad.mit.edu	37	X	22196457	22196457	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:22196457A>T	ENST00000379374.4	+	14	2115	c.1550A>T	c.(1549-1551)gAt>gTt	p.D517V	PHEX_ENST00000535894.1_Missense_Mutation_p.D420V|PHEX_ENST00000418858.3_Missense_Mutation_p.D220V|PHEX_ENST00000537599.1_Missense_Mutation_p.D517V	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	517					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GCACAGTCTGATTTCTTCTGG	0.358000													9	30					0	0	0.069234	0	0
USH2A	7399	broad.mit.edu	37	1	216373253	216373253	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:216373253G>A	ENST00000366943.2	-	17	3913	c.3527C>T	c.(3526-3528)tCt>tTt	p.S1176F	USH2A_ENST00000366942.3_Missense_Mutation_p.S1176F|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.S1176F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1176	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TATGGGACCAGATTGATTTGA	0.448000										HNSCC(13;0.011)			11	172					0	0	0.080935	0	0
TRIM58	25893	broad.mit.edu	37	1	248028134	248028134	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:248028134T>C	ENST00000366481.3	+	3	692	c.644T>C	c.(643-645)cTg>cCg	p.L215P		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	215						intracellular	zinc ion binding			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)			CTGCAGAGACTGCGGGAGAGC	0.657000													6	8					0	0	0.021553	0	0
CLDN25	644672	broad.mit.edu	37	11	113651172	113651172	+	Missense_Mutation	SNP	C	C	T	rs35111413		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:113651172C>T	ENST00000453129.2	+	1	704	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	219			H -> Y (in dbSNP:rs35111413).			integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGGCTCCTTCCACCTCATGCT	0.522000													13	60					0	0	0.146539	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998442	72998442	+	Silent	SNP	G	G	T	rs149658226	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:72998442G>T	ENST00000322038.5	+	2	1529	c.945G>T	c.(943-945)gcG>gcT	p.A315A	TSHZ1_ENST00000580243.1_Silent_p.A360A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AGGACCTGGCGCCCCCCTGCT	0.597000													6	56					1.26484e-09	2.00858e-09	0.038147	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215966	140215966	+	Silent	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140215966G>A	ENST00000525929.1	+	1	1998	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L666L	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGTGCTGGTGTCGCTGG	0.657000													16	41					0	0	0.069288	0	0
ABCA13	154664	broad.mit.edu	37	7	48520641	48520641	+	Silent	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:48520641A>T	ENST00000435803.1	+	46	13008	c.12984A>T	c.(12982-12984)ccA>ccT	p.P4328P	ABCA13_ENST00000544596.1_Silent_p.P58P	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4328					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGAAGTGTCCAAATAGAAGTG	0.398000													56	41					0	0	0.139131	0	0
UCHL1	7345	broad.mit.edu	37	4	41270006	41270006	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:41270006C>A	ENST00000284440.4	+	9	732	c.588C>A	c.(586-588)gaC>gaA	p.D196E	UCHL1_ENST00000503431.1_Missense_Mutation_p.D196E|UCHL1_ENST00000512788.1_Missense_Mutation_p.T206K|UCHL1_ENST00000508768.1_Missense_Mutation_p.D180E	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	196					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						CTTTCCAGGACGCTGCCAAGG	0.493000													3	24					0.00024832	0.00029937	0.009096	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135881795	135881795	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:135881795G>T	ENST00000264158.8	+	9	852	c.809G>T	c.(808-810)gGt>gTt	p.G270V	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G270V|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G226V|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	270						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTACCATTTGGTGCCTGCGAA	0.348000													6	52					0.00307968	0.00346834	0.038147	1	0
ZNF71	58491	broad.mit.edu	37	19	57133591	57133591	+	Silent	SNP	G	G	T	rs17851130		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:57133591G>T	ENST00000328070.6	+	3	1170	c.936G>T	c.(934-936)tcG>tcT	p.S312S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	312						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGAGCTCCTCGCTCACCCTGC	0.642000													15	90					3.27435e-08	4.93256e-08	0.119110	1	0
HYDIN	54768	broad.mit.edu	37	16	70843786	70843786	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:70843786G>A	ENST00000393567.2	-	85	14933	c.14783C>T	c.(14782-14784)cCg>cTg	p.P4928L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4928										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCTTTTCCGGAAGTGCTGG	0.483000													56	383					0	0	0.139131	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815260	179815260	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:179815260C>A	ENST00000367612.3	-	6	1746	c.1359G>T	c.(1357-1359)ctG>ctT	p.L453L		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	453						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CTGGCAGTACCAGGTGTGAAA	0.468000													5	33					3.59834e-05	4.59445e-05	0.021553	1	0
CHRNA6	8973	broad.mit.edu	37	8	42611872	42611872	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:42611872G>A	ENST00000276410.2	-	5	825	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CHRNA6_ENST00000534622.1_Missense_Mutation_p.S142F	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	157						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATAGGGCAGGAACTCTTAAA	0.393000													7	99					0	0	0.029380	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074159	8074159	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:8074159G>T	ENST00000075120.7	-	10	1581	c.1341C>A	c.(1339-1341)ttC>ttA	p.F447L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	447					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGACTTTGAAGAAGGTAAAAG	0.473000													16	46					0.000422831	0.00050238	0.146539	1	0
CENPW	387103	broad.mit.edu	37	6	126667464	126667464	+	Splice_Site	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:126667464G>C	ENST00000368328.4	+	2	340	c.240_splice	c.e2+1	p.K80_splice	CENPW_ENST00000368325.1_Splice_Site_p.K95_splice|CENPW_ENST00000368326.1_Splice_Site_p.R67_splice			Q5EE01	CENPW_HUMAN	centromere protein W	80						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						CCGCAGCAAAGGTAAAATCCA	0.398000													5	62					0	0	0.021553	0	0
CSMD1	64478	broad.mit.edu	37	8	2910157	2910157	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:2910157C>A	ENST00000520002.1	-	51	8045	c.7490G>T	c.(7489-7491)gGa>gTa	p.G2497V	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2496V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2497V|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2497V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2497V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2496V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2497	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTGGGATTCCACAGGACAC	0.373000													3	36					6.4e-05	8.04833e-05	0.115264	1	0
KRT16P4	339244	broad.mit.edu	37	17	18332327	18332327	+	RNA	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:18332327G>C	ENST00000580052.1	+	0	43				KRT17P2_ENST00000326333.8_RNA																							GGCCAGAGCCGACCCGGAGAT	0.602000													3	13					0	0	0.021553	0	0
VRK3	51231	broad.mit.edu	37	19	50510998	50510998	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:50510998C>A	ENST00000599538.1	-	5	1039	c.375G>T	c.(373-375)aaG>aaT	p.K125N	VRK3_ENST00000601912.1_Missense_Mutation_p.K75N|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601341.1_Missense_Mutation_p.K75N|VRK3_ENST00000316763.3_Missense_Mutation_p.K125N|VRK3_ENST00000593919.1_Missense_Mutation_p.K125N|VRK3_ENST00000594092.1_Missense_Mutation_p.K125N|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.K125N|VRK3_ENST00000377011.2_Missense_Mutation_p.K75N			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	125						nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TACAGCTGGTCTTCTGAGGGC	0.612000													14	111					1.15088e-07	1.67234e-07	0.146539	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605585	5605585	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrY:5605585G>T	ENST00000215473.6	+	6	3625	c.3625G>T	c.(3625-3627)Gtg>Ttg	p.V1209L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1209					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCGATACAGGTGTCTGCTCT	0.587000													15	120					6.94344e-10	1.11122e-09	0.038395	1	0
KCNMB2	10242	broad.mit.edu	37	3	178525238	178525238	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:178525238G>A	ENST00000432997.1	+	2	393	c.41G>A	c.(40-42)aGa>aAa	p.R14K	RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R14K|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R14K|KCNMB2_ENST00000470361.2_3'UTR|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R14K	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	14	Ball and chain.				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TCATCTTATAGACATGATGAA	0.443000													17	68					0	0	0.043863	0	0
SLC25A37	51312	broad.mit.edu	37	8	23428995	23428995	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:23428995A>T	ENST00000519973.1	+	4	842	c.644A>T	c.(643-645)cAc>cTc	p.H215L		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	215					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CAGTCCATCCACTTCATCACC	0.632000													9	76					0	0	0.105934	0	0
MEOX2	4223	broad.mit.edu	37	7	15652107	15652107	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:15652107C>G	ENST00000262041.5	-	3	1229	c.820G>C	c.(820-822)Gga>Cga	p.G274R		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	274					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GCACCAATTCCCGACAGCTCT	0.512000													16	177					0	0	0.146539	0	0
TMEM44	93109	broad.mit.edu	37	3	194313775	194313775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:194313775C>A	ENST00000273580.7	-	10	1409	c.1204G>T	c.(1204-1206)Gag>Tag	p.E402*	TMEM44_ENST00000473092.1_Nonsense_Mutation_p.E401*|TMEM44_ENST00000347147.4_Intron|TMEM44_ENST00000381975.3_Intron|TMEM44_ENST00000392432.2_Intron	NM_138399.4	NP_612408.3	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	439						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CATACCTGCTCCGAGTTTAGG	0.468000													6	82					3.59834e-05	4.59445e-05	0.021553	1	0
OR13A1	79290	broad.mit.edu	37	10	45798994	45798994	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:45798994C>A	ENST00000553795.1	-	4	1185	c.877G>T	c.(877-879)Ggc>Tgc	p.G293C	OR13A1_ENST00000374401.2_Missense_Mutation_p.G293C|OR13A1_ENST00000536058.1_Missense_Mutation_p.G293C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TACAGCAGGCCAGCCAACTTG	0.532000													6	68					0.0293803	0.0311242	0.029380	1	0
PSG7	5676	broad.mit.edu	37	19	43430685	43430685	+	RNA	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:43430685G>T	ENST00000446844.3	-	0	982				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CGTGACACTGGGTAGAATGAG	0.502000													48	239					2.65591e-33	5.25422e-33	0.139131	1	0
GABRR2	2570	broad.mit.edu	37	6	89975454	89975454	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:89975454G>T	ENST00000402938.3	-	7	900	c.767C>A	c.(766-768)aCg>aAg	p.T256K	GABRR2_ENST00000602399.1_Missense_Mutation_p.T281K			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	281					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCGACGCAACGTGAAGTTAAT	0.517000													5	53					0.00116845	0.0013398	0.021553	1	0
LRP1B	53353	broad.mit.edu	37	2	141571333	141571333	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:141571333C>G	ENST00000389484.3	-	32	6223	c.5252G>C	c.(5251-5253)aGt>aCt	p.S1751T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1751					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATTCCCTGAACTGATCCAATA	0.338000										TSP Lung(27;0.18)			3	61					0	0	0.115264	0	0
KCNH8	131096	broad.mit.edu	37	3	19491721	19491721	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:19491721C>A	ENST00000328405.2	+	9	1765	c.1499C>A	c.(1498-1500)cCc>cAc	p.P500H	KCNH8_ENST00000537696.1_Missense_Mutation_p.P169H	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	500						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATCACTTGCCCCAACAACTC	0.413000													22	99					5.26018e-13	9.18852e-13	0.062417	1	0
ITGAD	3681	broad.mit.edu	37	16	31425863	31425863	+	Silent	SNP	T	T	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:31425863T>A	ENST00000389202.2	+	17	2137	c.2088T>A	c.(2086-2088)acT>acA	p.T696T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	696					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGAACCCCACTTTGACTCGAA	0.517000													53	299					0	0	0.139131	0	0
TPTE	7179	broad.mit.edu	37	21	10944778	10944778	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:10944778C>G	ENST00000298232.7	-	10	769	c.402G>C	c.(400-402)caG>caC	p.Q134H	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.Q152H|TPTE_ENST00000342420.5_Missense_Mutation_p.Q114H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	152					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CAGAAAAATACTGCTGTCTCC	0.323000													4	134					0	0	0.009096	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605189	140605189	+	Silent	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:140605189G>T	ENST00000239449.4	+	1	2112	c.2112G>T	c.(2110-2112)tcG>tcT	p.S704S	PCDHB14_ENST00000515856.2_Silent_p.S551S	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGCTCCTGT	0.706000													21	68					3.1745e-13	5.61694e-13	0.134883	1	0
PDGFRL	5157	broad.mit.edu	37	8	17447231	17447231	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:17447231A>T	ENST00000541323.1	+	3	755	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	PDGFRL_ENST00000251630.6_Missense_Mutation_p.S104C|PDGFRL_ENST00000398074.3_Missense_Mutation_p.S104C	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	104	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AATTGGGTGGAGCTACCCTGC	0.463000													15	109					0	0	0.146539	0	0
CD163L1	283316	broad.mit.edu	37	12	7556286	7556286	+	Missense_Mutation	SNP	C	C	T	rs145190922		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:7556286C>T	ENST00000313599.3	-	6	1310	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	CD163L1_ENST00000396630.1_Missense_Mutation_p.G418D|CD163L1_ENST00000416109.2_Missense_Mutation_p.G428D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	418	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACGACGACTGCCAAAGACGCT	0.448000													30	110					0	0	0.045705	0	0
KIAA1199	57214	broad.mit.edu	37	15	81229225	81229225	+	Splice_Site	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:81229225A>T	ENST00000394685.3	+	24	3639	c.3221_splice	c.e24+1	p.K1074_splice	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Splice_Site_p.K1074_splice|KIAA1199_ENST00000220244.3_Splice_Site_p.K1074_splice			Q8WUJ3	K1199_HUMAN	KIAA1199	1074										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						CAACTTCAACAAGTGAGTGGG	0.567000													9	62					0	0	0.146539	0	0
GBA3	57733	broad.mit.edu	37	4	22749030	22749030	+	RNA	SNP	G	G	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:22749030G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAAGGAGGTTGGTTGTCAGAG	0.413000													24	116					0	0	0.083992	0	0
SCN4A	6329	broad.mit.edu	37	17	62025277	62025277	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:62025277C>G	ENST00000435607.1	-	17	3367	c.3291G>C	c.(3289-3291)tgG>tgC	p.W1097C	SCN4A_ENST00000578147.1_Missense_Mutation_p.W1097C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1097					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGAGCCAGCACCAGGCGTTGG	0.567000													8	17					0	0	0.058154	0	0
KCMF1	56888	broad.mit.edu	37	2	85255017	85255017	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:85255017A>T	ENST00000409785.3	+	2	381	c.22A>T	c.(22-24)Agc>Tgc	p.S8C		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	8						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TATAGGTGTCAGCTGTGATGC	0.338000													5	34					0	0	0.021553	0	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	77					0	0	0.115264	0	0
ALMS1	7840	broad.mit.edu	37	2	73677104	73677104	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:73677104G>T	ENST00000264448.6	+	8	3558	c.3447G>T	c.(3445-3447)aaG>aaT	p.K1149N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1107N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1149N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1149	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAGAGAAAAGCCCAGCATTT	0.473000													23	341					9.04412e-07	1.2671e-06	0.099896	1	0
FAT3	120114	broad.mit.edu	37	11	92531048	92531048	+	Silent	SNP	C	C	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:92531048C>A	ENST00000298047.6	+	9	4886	c.4869C>A	c.(4867-4869)atC>atA	p.I1623I	FAT3_ENST00000409404.2_Silent_p.I1623I|FAT3_ENST00000525166.1_Silent_p.I1473I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1623	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				TAGGCATCATCACCATTTGCA	0.443000										TCGA Ovarian(4;0.039)			12	167					4.3838e-07	6.21606e-07	0.105934	1	0
LINC01398	101929651	broad.mit.edu	37	1	46915291	46915291	+	RNA	DEL	G	G	-	rs5773910		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:46915291delG	ENST00000416581.1	-	0	85																											GAATGAAGGAGTAAGCTGAGC	0.498													2	4	---	---	---	---					
RP4-683M8.2	0	broad.mit.edu	37	1	48520866	48520886	+	RNA	DEL	AGGGTGAGTAGGCCTGGGCAG	AGGGTGAGTAGGCCTGGGCAG	-	rs140092147	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:48520866_48520886delAGGGTGAGTAGGCCTGGGCAG	ENST00000439795.1	+	0	183_185																											GGCTCTGAGCAGGGTGAGTAGGCCTGGGCAGAGTTTGGTGC	0.593													2	4	---	---	---	---					
ZRANB2-AS2	100852410	broad.mit.edu	37	1	71590995	71590996	+	RNA	INS	-	-	C	rs71095930	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:71590995_71590996insC	ENST00000455406.1	+	0	131				ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2-AS2_ENST00000415780.1_RNA	NR_046217.1																						ttcttttttttatgtaagtgtg	0.391													3	3	---	---	---	---					
LINC01362	103283057	broad.mit.edu	37	1	83572718	83572719	+	RNA	DEL	AA	AA	-	rs60293344		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:83572718_83572719delAA	ENST00000452901.1	+	0	1539																											accccatctcaaaaaaaaaaaa	0.416													2	4	---	---	---	---					
LOC101927587	101927587	broad.mit.edu	37	1	84077427	84077442	+	RNA	DEL	CACACACACACACACA	CACACACACACACACA	-	rs55768712		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:84077427_84077442delCACACACACACACACA	ENST00000417975.1	-	0	280																											CCAGCCATGTcacacacacacacacacacacacaca	0.407													3	4	---	---	---	---					
LOC101928241	101928241	broad.mit.edu	37	1	96818102	96818111	+	RNA	DEL	TGTGTGTGTG	TGTGTGTGTG	-	rs71886703		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:96818102_96818111delTGTGTGTGTG	ENST00000435311.1	-	0	165																											ggcttattactgtgtgtgtgtgtgtgtgtg	0.338													2	4	---	---	---	---					
LOC100129620	100129620	broad.mit.edu	37	1	99562318	99562321	+	RNA	DEL	TTTT	TTTT	-	rs150632426		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:99562318_99562321delTTTT	ENST00000425113.1	+	0	370					NR_033940.1																						gccttctttgtttttttttttttt	0.333													2	4	---	---	---	---					
LINC01307	104355286	broad.mit.edu	37	1	101840225	101840226	+	RNA	INS	-	-	T	rs72721688	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:101840225_101840226insT	ENST00000444327.1	+	0	137																											ctttttttttgttttttttttt	0.391													2	4	---	---	---	---					
CELSR2	1952	broad.mit.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs145548198	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)gcc>CGCgcc	p.11_12insR		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	11					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752													4	2	---	---	---	---					
GSTM5	2949	broad.mit.edu	37	1	110288378	110288378	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:110288378delG	ENST00000431955.1	+	0	627																											attttttgaagggttttttgt	0.333													2	4	---	---	---	---					
RP11-417J8.1	0	broad.mit.edu	37	1	142556074	142556075	+	RNA	INS	-	-	T	rs143055955		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:142556074_142556075insT	ENST00000445662.1	+	0	204																											ttctttttttcttttttttttt	0.356													3	4	---	---	---	---					
RP11-417J8.2	0	broad.mit.edu	37	1	142574428	142574429	+	RNA	DEL	AT	AT	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:142574428_142574429delAT	ENST00000415979.2	-	0	215																											ATCTAATGAAATATATGGACAC	0.347													5	4	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142640077	142640078	+	RNA	DEL	TG	TG	-	rs71582729		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:142640077_142640078delTG	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							gttgaggctctgtgtgtgtgtg	0.337													3	3	---	---	---	---					
LOC101927648	101927648	broad.mit.edu	37	1	143462361	143462362	+	RNA	INS	-	-	A	rs141398466		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:143462361_143462362insA	ENST00000423249.1	-	0	59																											gacaacagattaaaaaaaatgt	0.391													2	4	---	---	---	---					
SRGAP2B	647135	broad.mit.edu	37	1	144011819	144011820	+	RNA	INS	-	-	T	rs143117611	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:144011819_144011820insT	ENST00000467933.1	+	0	915																											tgcctggctaatttttttttgt	0.554													4	5	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597567	144597568	+	RNA	INS	-	-	A	rs67984124		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:144597567_144597568insA	ENST00000419820.1	+	0	439																											TAAAATCTCTTACAGCTATTAT	0.272													3	6	---	---	---	---					
RP11-640M9.2	0	broad.mit.edu	37	1	144597983	144597991	+	RNA	DEL	CAGATAGAC	CAGATAGAC	-	rs111294330		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:144597983_144597991delCAGATAGAC	ENST00000419820.1	+	0	439																											TATACGTGTACAGATAGACCAGATAGACC	0.402													8	6	---	---	---	---					
LOC101928979	101928979	broad.mit.edu	37	1	145379288	145379289	+	RNA	DEL	AT	AT	-	rs59172032		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:145379288_145379289delAT	ENST00000419817.1	-	0	307																											TTATGGAGCAATAGAGAGGAAC	0.500													2	4	---	---	---	---					
LOC101928009	101928009	broad.mit.edu	37	1	153161182	153161182	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:153161182delG	ENST00000427145.1	+	0	656																											tggggcaccaggcaccactgg	0.542													3	3	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	172787817	172787828	+	RNA	DEL	GTGTGTGTGTGT	GTGTGTGTGTGT	-	rs10547933	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:172787817_172787828delGTGTGTGTGTGT	ENST00000432694.1	+	0	223																											GGCGGAAGGGgtgtgtgtgtgtgtgtgtgtgt	0.425													4	7	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	173002244	173002244	+	RNA	DEL	A	A	-	rs75682734		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:173002244delA	ENST00000432694.1	+	0	656																											actctgtctcaaaaaaaaaaa	0.453													2	4	---	---	---	---					
RP1-35C21.2	0	broad.mit.edu	37	1	177410428	177410428	+	RNA	DEL	T	T	-	rs72398336		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:177410428delT	ENST00000438575.1	-	0	296																											GAATATAGAGTTTTTTTTTTT	0.328													3	3	---	---	---	---					
LINC01344	400799	broad.mit.edu	37	1	182260621	182260621	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:182260621delC	ENST00000449842.1	-	0	410																											TCTTCCCAGTCCCCATATTCA	0.522													2	4	---	---	---	---					
LYPLAL1-AS1	643723	broad.mit.edu	37	1	219275598	219275599	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:219275598_219275599insA	ENST00000441331.1	-	0	665																											ctttctgaaccaaaaaaaatgt	0.371													2	4	---	---	---	---					
RP11-400N13.1	0	broad.mit.edu	37	1	222543626	222543626	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:222543626delC	ENST00000416510.1	-	0	167																											AAGCAGAGGACCCATTAGGCT	0.498													2	4	---	---	---	---					
RP5-865N13.2	0	broad.mit.edu	37	1	232308140	232308140	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:232308140delC	ENST00000428673.1	+	0	133																											AAGAGTGTTGCCAGGATATTA	0.393													2	4	---	---	---	---					
LOC339529	339529	broad.mit.edu	37	1	244197444	244197445	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:244197444_244197445insA	ENST00000440494.1	+	0	1053					NR_033883.1																						TACTGTGAGGGAAAAATTAGCG	0.376													2	4	---	---	---	---					
RP11-278H7.4	0	broad.mit.edu	37	1	244238041	244238042	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr1:244238041_244238042insT	ENST00000441338.1	-	0	160																											CACCTGCAGCCTTTTTTTTCTC	0.594													2	4	---	---	---	---					
LINC01250	101927554	broad.mit.edu	37	2	2956242	2956249	+	RNA	DEL	CACACACA	CACACACA	-	rs72447586		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:2956242_2956249delCACACACA	ENST00000457478.1	-	0	594																											cacgcacatgcacacacacacacacaca	0.462													2	4	---	---	---	---					
LINC01248	102723818	broad.mit.edu	37	2	5810462	5810463	+	RNA	INS	-	-	AAGT	rs71266357	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:5810462_5810463insAAGT	ENST00000453678.1	-	0	258				AC107057.2_ENST00000458264.1_RNA																							TCTCAGTACTAACGACTGCATT	0.376													3	4	---	---	---	---					
LINC01248	102723818	broad.mit.edu	37	2	5820654	5820654	+	RNA	DEL	T	T	-	rs112708846		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:5820654delT	ENST00000453678.1	-	0	258				AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA																							tagggcttggttttttttttt	0.333													2	4	---	---	---	---					
LOC400940	400940	broad.mit.edu	37	2	6097038	6097038	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:6097038delT	ENST00000431188.1	+	0	134																											ccagtgtttcttttttttttt	0.363													2	4	---	---	---	---					
LOC100506457	100506457	broad.mit.edu	37	2	12239416	12239419	+	RNA	DEL	TGTG	TGTG	-	rs34719255		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:12239416_12239419delTGTG	ENST00000412294.1	+	0	197																											tatgtgtatatgtgtgtgtgtgtg	0.319													3	3	---	---	---	---					
AC010880.1	0	broad.mit.edu	37	2	16567756	16567757	+	RNA	INS	-	-	TTCCTCCGTGGGGG	rs149007225	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:16567756_16567757insTTCCTCCGTGGGGG	ENST00000427950.1	+	0	83																											ACCAGGACAAATTCCTTCAGCC	0.460													2	4	---	---	---	---					
AC016768.1	0	broad.mit.edu	37	2	23258301	23258302	+	RNA	INS	-	-	AC	rs145662868	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:23258301_23258302insAC	ENST00000421581.1	-	0	91																											TCTATATCTATacacacacaca	0.455													3	4	---	---	---	---					
AC073218.1	0	broad.mit.edu	37	2	34658582	34658582	+	RNA	DEL	G	G	-	rs79198736		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:34658582delG	ENST00000422558.1	+	0	475																											tttgtggaaaggttggggaat	0.398													3	3	---	---	---	---					
AC009229.5	0	broad.mit.edu	37	2	38445152	38445153	+	RNA	INS	-	-	CTTC	rs113722114	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:38445152_38445153insCTTC	ENST00000450854.1	-	0	533																											TTTTGCCCTGTCTTATGATTCA	0.455													3	3	---	---	---	---					
AC079807.4	0	broad.mit.edu	37	2	48334056	48334056	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:48334056delA	ENST00000447571.1	-	0	240																		p.0?(2)									TTTCATGTGTAATCATTTAAA	0.428											OREG0014613	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	51676669	51676670	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:51676669_51676670insT	ENST00000440698.1	+	0	694																											gagagtttccatttttttttct	0.406													2	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60018848	60018849	+	RNA	INS	-	-	ACA	rs78971526		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:60018848_60018849insACA	ENST00000606382.1	-	0	236																											TTGAAGGTTGTGCTTAGTTTTC	0.351													3	3	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60173939	60173940	+	RNA	DEL	TG	TG	-	rs70957445		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:60173939_60173940delTG	ENST00000606382.1	-	0	110																											TGTGTTTGATtgtgtgtgtgtg	0.455													2	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60298246	60298246	+	RNA	DEL	A	A	-	rs144691887		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:60298246delA	ENST00000606382.1	-	0	110																											GCAGGCCATTAAAAAAAAAAG	0.343													2	4	---	---	---	---					
LOC100507073	100507073	broad.mit.edu	37	2	66820300	66820301	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:66820300_66820301insT	ENST00000433396.1	+	0	136																											agtccctccccatcacttgcat	0.500													2	4	---	---	---	---					
AC084193.1	0	broad.mit.edu	37	2	81014264	81014269	+	RNA	DEL	TGTGTG	TGTGTG	-	rs72218884		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:81014264_81014269delTGTGTG	ENST00000450290.1	-	0	146																											tgtgtgtgtttgtgtgtgtgtgtgtg	0.364													4	5	---	---	---	---					
AC068535.2	0	broad.mit.edu	37	2	105028295	105028295	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:105028295delT	ENST00000416008.1	+	0	279																											CTGAGCCAGATTTTTTTTTTT	0.373													2	4	---	---	---	---					
LOC100506797	100506797	broad.mit.edu	37	2	118891490	118891490	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:118891490delA	ENST00000414886.1	-	0	533																											ACCAGAAATTAGGTTCTGAGG	0.458													2	4	---	---	---	---					
AC023347.1	0	broad.mit.edu	37	2	127080720	127080721	+	RNA	INS	-	-	AGAG	rs137902752	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:127080720_127080721insAGAG	ENST00000435352.1	+	0	373																											atgaaagaattagaaagttgct	0.401													3	5	---	---	---	---					
LOC101929231	101929231	broad.mit.edu	37	2	150509500	150509504	+	RNA	DEL	TTCAT	TTCAT	-	rs3040982		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:150509500_150509504delTTCAT	ENST00000449714.1	+	0	655																											GCATTTTGACTTCATTTCATTTCTC	0.420													3	3	---	---	---	---					
AC007364.1	0	broad.mit.edu	37	2	150701716	150701723	+	RNA	DEL	CCAGGGCC	CCAGGGCC	-	rs74267457		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:150701716_150701723delCCAGGGCC	ENST00000295052.3	-	0	1302				AC144449.1_ENST00000449714.1_RNA																							tctcattggaccagggccccagggcctc	0.505													4	3	---	---	---	---					
AC012501.2	0	broad.mit.edu	37	2	154289227	154289228	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:154289227_154289228insG	ENST00000424322.1	-	0	429																											AGTTTTTGGCTGGGGGGTGGGG	0.441													2	4	---	---	---	---					
PKP4	8502	broad.mit.edu	37	2	159481557	159481557	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:159481557delC	ENST00000389757.3	+	7	896	c.771delC	c.(769-771)aafs	p.N257fs	PKP4_ENST00000389759.3_Frame_Shift_Del_p.N257fs	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	257					cell adhesion	desmosome	protein binding			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						GACCTCTGAACCCCAGTGCAT	0.577										HNSCC(62;0.18)			15	105	---	---	---	---					
AC092684.1	0	broad.mit.edu	37	2	164764731	164764731	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:164764731delA	ENST00000429636.1	-	0	275																											agttttacttaaaaaaaaaga	0.323													2	4	---	---	---	---					
SCN7A	6332	broad.mit.edu	37	2	167262762	167262762	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:167262762delC	ENST00000409855.1	-	25	4503	c.4377delG	c.(4375-4377)ggfs	p.G1459fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1459					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TAACTTGAGTCCCAGGGTTAA	0.378													18	208	---	---	---	---					
SLC40A1	30061	broad.mit.edu	37	2	190428407	190428407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:190428407delC	ENST00000261024.2	-	7	1731	c.1305delG	c.(1303-1305)ggfs	p.G435fs		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	435					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAGAATTAGACCCATTAGACA	0.408													14	122	---	---	---	---					
AC013401.1	0	broad.mit.edu	37	2	193502572	193502573	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:193502572_193502573insA	ENST00000414394.1	+	0	96																											gctgattggagaaaaaataata	0.327													2	4	---	---	---	---					
LOC101927865	101927865	broad.mit.edu	37	2	208060152	208060153	+	RNA	DEL	TT	TT	-	rs57389637		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:208060152_208060153delTT	ENST00000435643.1	+	0	285																											TCTCCTGGGAtttttttttttt	0.426													3	3	---	---	---	---					
LINC00607	646324	broad.mit.edu	37	2	216505240	216505240	+	RNA	DEL	T	T	-	rs34455900		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:216505240delT	ENST00000445174.1	-	0	723				AC012668.2_ENST00000417485.2_lincRNA	NR_037195.1																						TCTTTTTCCCTCTCTCTGTAT	0.403													3	4	---	---	---	---					
AC098820.2	0	broad.mit.edu	37	2	217264502	217264503	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:217264502_217264503insT	ENST00000457694.1	-	0	272																											AATTAAAAGGCTTTTCCCTAAA	0.465													2	4	---	---	---	---					
AC114765.1	0	broad.mit.edu	37	2	221243291	221243292	+	RNA	DEL	CA	CA	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:221243291_221243292delCA	ENST00000432993.1	+	0	427																											gagctgagatcacgccactgca	0.480													2	4	---	---	---	---					
AC067956.1	0	broad.mit.edu	37	2	221529701	221529701	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:221529701delG	ENST00000414512.1	+	0	898																											TGGGCCCTGTGGAGCACTTCT	0.413													2	4	---	---	---	---					
RHBDD1	84236	broad.mit.edu	37	2	227778956	227778956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr2:227778956delG	ENST00000392062.2	+	8	1269	c.745delG	c.(745-747)gcfs	p.G249fs	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000409053.1_Frame_Shift_Del_p.G83fs|RHBDD1_ENST00000341329.3_Frame_Shift_Del_p.G249fs	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	249						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTATCCGCATGGCAGGCCAGA	0.453													22	142	---	---	---	---					
LINC01266	101927215	broad.mit.edu	37	3	653707	653708	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:653707_653708insA	ENST00000420823.1	+	0	176																											ttggtagcttgaaggggatggc	0.391													4	6	---	---	---	---					
LINC01266	101927215	broad.mit.edu	37	3	884746	884747	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:884746_884747insT	ENST00000420823.1	+	0	996_997																											taatagttaggttttttgggag	0.431													2	4	---	---	---	---					
LMCD1-AS1	100288428	broad.mit.edu	37	3	8021594	8021594	+	RNA	DEL	T	T	-	rs60773544		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:8021594delT	ENST00000441861.1	-	0	508				LMCD1-AS1_ENST00000446281.1_RNA																							gtgaaaaccctgtttctacca	0.512													2	4	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12104884	12104884	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:12104884delA	ENST00000432424.2	+	0	549							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						gattaaaggcaaaagaatcta	0.303													2	4	---	---	---	---					
HSPD1P6	645548	broad.mit.edu	37	3	36823314	36823315	+	RNA	INS	-	-	A	rs60124510		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:36823314_36823315insA	ENST00000424886.1	-	0	35																											CTTCTGAAGCCAAAAAAAAAAA	0.312													4	3	---	---	---	---					
RP11-761N21.1	0	broad.mit.edu	37	3	40900597	40900598	+	RNA	INS	-	-	CT	rs66504772	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:40900597_40900598insCT	ENST00000412811.1	+	0	265																											tctgctgaggactttctataga	0.470													4	5	---	---	---	---					
PTPRG-AS1	100506994	broad.mit.edu	37	3	62329213	62329213	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:62329213delC	ENST00000490916.1	-	0	135				PTPRG-AS1_ENST00000495542.1_RNA																							ggatctgtgtccctgcccaaa	0.473													2	4	---	---	---	---					
RP11-231I13.2	0	broad.mit.edu	37	3	70308567	70308568	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:70308567_70308568insA	ENST00000567252.1	-	0	264																											TATTGACTTTTAAAAAAAAAAA	0.396													2	4	---	---	---	---					
LOC152225	152225	broad.mit.edu	37	3	101689441	101689442	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:101689441_101689442insT	ENST00000465215.1	+	0	268				RP11-221J22.2_ENST00000483840.1_lincRNA	NR_026934.1																						gtgtggatgtcttttttgctga	0.446													2	4	---	---	---	---					
LINC01210	100507274	broad.mit.edu	37	3	137496602	137496603	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:137496602_137496603insG	ENST00000478772.1	+	0	471																											GAGGACAAACTGGGGGGGTGCC	0.470													3	6	---	---	---	---					
RP11-501O2.5	0	broad.mit.edu	37	3	148094665	148094668	+	RNA	DEL	AAGG	AAGG	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:148094665_148094668delAAGG	ENST00000481334.1	+	0	210																											aaggaaggaaaaggaaggaaggaa	0.358													6	6	---	---	---	---					
CLRN1-AS1	116933	broad.mit.edu	37	3	150707510	150707510	+	RNA	DEL	A	A	-	rs113745869		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:150707510delA	ENST00000476886.1	+	0	123				CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA																							gacctggtttaaaaaaaaaaa	0.428													2	4	---	---	---	---					
RP11-362A9.3	0	broad.mit.edu	37	3	152193801	152193801	+	RNA	DEL	T	T	-	rs112279499		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:152193801delT	ENST00000463255.1	-	0	59																											cctggGTTGGTTTTTTTTTTT	0.443													3	3	---	---	---	---					
RP11-292E2.1	0	broad.mit.edu	37	3	153082880	153082881	+	RNA	INS	-	-	A	rs146780697	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:153082880_153082881insA	ENST00000498457.1	+	0	133																											ggctggagtgcagtggcatgat	0.510													4	4	---	---	---	---					
LINC00886	730091	broad.mit.edu	37	3	156468780	156468781	+	RNA	INS	-	-	A	rs11442947	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:156468780_156468781insA	ENST00000472943.1	-	0	237					NR_038387.1																						TTAATTTAGCTAGGCTCTTAGA	0.436													3	5	---	---	---	---					
LOC100996447	100996447	broad.mit.edu	37	3	158263875	158263875	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:158263875delT	ENST00000475981.1	-	0	1282																											TTTTTTGGGGTTTTTTTTGGG	0.473													2	4	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172899829	172899830	+	RNA	INS	-	-	GT	rs10675883		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:172899829_172899830insGT	ENST00000447709.1	+	0	22																											ATTATAATGGGgtgtgtgtgtg	0.391													3	5	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	173023754	173023755	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr3:173023754_173023755insA	ENST00000447709.1	+	0	216																											TAGTCCTACAGAAAAAAGAAAT	0.332													2	4	---	---	---	---					
STX18-AS1	100507266	broad.mit.edu	37	4	4568287	4568287	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:4568287delT	ENST00000502693.1	+	0	357				STX18-AS1_ENST00000512438.1_RNA																							tgtcctttgcttttttttttg	0.507													2	4	---	---	---	---					
LOC101929095	101929095	broad.mit.edu	37	4	15304257	15304258	+	RNA	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:15304257_15304258insC	ENST00000502344.1	-	0	86																											GCCACCCTACACCCCCCACTGC	0.470													2	4	---	---	---	---					
RP11-141E13.1	0	broad.mit.edu	37	4	16998589	16998589	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:16998589delT	ENST00000511735.1	-	0	154																											TATATAGTCATTTTTAAACTT	0.323													2	4	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22764048	22764049	+	RNA	INS	-	-	T	rs150097176	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:22764048_22764049insT	ENST00000508166.1	+	0	1309				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAACTTTCCAGTTTTTTTTCCA	0.347													2	4	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22785321	22785321	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:22785321delA	ENST00000508166.1	+	0	1309				GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCCTCAGTGTAATGAAAGCTG	0.463													2	4	---	---	---	---					
LOC401134	401134	broad.mit.edu	37	4	65867296	65867297	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:65867296_65867297insA	ENST00000509932.1	-	0	98					NR_033976.1																						atgttgatgttaaaaatactgg	0.455													2	4	---	---	---	---					
ENAM	10117	broad.mit.edu	37	4	71508303	71508304	+	Frame_Shift_Ins	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:71508303_71508304insA	ENST00000396073.3	+	9	1441_1442	c.1160_1161insA	c.(1159-1161)tagfs	p.*387fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	387					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCTCCTACTTCAAGAGGCAATT	0.465													36	422	---	---	---	---					
AFF1	4299	broad.mit.edu	37	4	87968000	87968000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:87968000delA	ENST00000307808.6	+	3	712	c.292delA	c.(292-294)aafs	p.K98fs	AFF1_ENST00000395146.4_Frame_Shift_Del_p.K105fs|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	98						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AATTCCTGACAAAGGGAGCAG	0.478													36	346	---	---	---	---					
LOC100507053	100507053	broad.mit.edu	37	4	100180081	100180082	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:100180081_100180082insT	ENST00000500358.2	+	0	3789				RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000509295.1_RNA	NR_037884.1																						ttttgtttttgtttttttttct	0.327													2	4	---	---	---	---					
RP11-556I14.1	0	broad.mit.edu	37	4	105971886	105971886	+	RNA	DEL	G	G	-	rs78125896	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:105971886delG	ENST00000506386.1	+	0	71																											tgaggtgactggggcctagag	0.488													2	4	---	---	---	---					
RP11-371F15.3	0	broad.mit.edu	37	4	139786778	139786781	+	RNA	DEL	GGAA	GGAA	-	rs112477691		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:139786778_139786781delGGAA	ENST00000507038.1	-	0	158				RP11-371F15.3_ENST00000511951.1_RNA																							aaggaaagagggaaggaaggaagg	0.436													4	5	---	---	---	---					
RP11-284M14.1	0	broad.mit.edu	37	4	143906582	143906582	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:143906582delA	ENST00000507826.1	-	0	354																											CGCCGGAAGGAAAAAAAAAAA	0.468													2	4	---	---	---	---					
LOC90768	90768	broad.mit.edu	37	4	182943684	182943685	+	RNA	DEL	AA	AA	-	rs72407335		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:182943684_182943685delAA	ENST00000507869.1	-	0	354				AC108142.1_ENST00000509012.1_RNA																							tcccctgaataaaaaaaaaaaa	0.351													3	4	---	---	---	---					
LOC728339	728339	broad.mit.edu	37	4	190825928	190825928	+	RNA	DEL	T	T	-	rs139102049		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr4:190825928delT	ENST00000511785.1	-	0	231																											ttaccaaaaatttgaaaaatt	0.532													5	4	---	---	---	---					
RP11-445O3.1	0	broad.mit.edu	37	5	4513160	4513161	+	RNA	INS	-	-	T	rs141965554	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:4513160_4513161insT	ENST00000503188.1	+	0	222				RP11-445O3.2_ENST00000507435.1_lincRNA																							ATACACAATTATTTTTTTTTTA	0.322													2	4	---	---	---	---					
CTD-2247C11.1	0	broad.mit.edu	37	5	5025283	5025283	+	RNA	DEL	A	A	-	rs72266160		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:5025283delA	ENST00000509057.1	-	0	135																											AGAAGCTAAGAAAAAAAAAAA	0.448													2	4	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21558318	21558322	+	RNA	DEL	GTTTA	GTTTA	-	rs2354609		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:21558318_21558322delGTTTA	ENST00000607545.1	+	0	314					NR_027026.1																						TCCGTTGGTTGTTTAGTTTATTCCT	0.346													4	4	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21559451	21559452	+	RNA	DEL	TG	TG	-	rs3056572		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:21559451_21559452delTG	ENST00000607545.1	+	0	314					NR_027026.1																						GTTGAAAAACTGTGCTTATGTA	0.426													4	3	---	---	---	---					
GUSBP1	728411	broad.mit.edu	37	5	21566517	21566518	+	RNA	INS	-	-	AATG	rs140291614	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:21566517_21566518insAATG	ENST00000607545.1	+	0	314					NR_027026.1																						tctcagtaatttctttttcatg	0.282													4	6	---	---	---	---					
RP11-136K7.2	0	broad.mit.edu	37	5	70716887	70716887	+	RNA	DEL	A	A	-	rs150806186		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:70716887delA	ENST00000502659.2	-	0	698																											TTGAAAGAGGaaaaaaaaaaa	0.348													2	4	---	---	---	---					
TMEM161B-AS1	100505894	broad.mit.edu	37	5	87588167	87588168	+	RNA	INS	-	-	A	rs112177565	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:87588167_87588168insA	ENST00000501715.2	+	0	501				TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000512724.1_RNA																							ataacattctcaaattgcaaaa	0.376													2	4	---	---	---	---					
RP11-348J24.2	0	broad.mit.edu	37	5	91573130	91573130	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:91573130delC	ENST00000502934.1	+	0	172																											ctgtagtcatcaggttatcca	0.378													2	4	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95401106	95401107	+	RNA	DEL	TG	TG	-	rs67902611		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:95401106_95401107delTG	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							gttaatgatctgtgtgtgtgtg	0.337													3	5	---	---	---	---					
RP11-6N13.1	0	broad.mit.edu	37	5	103915598	103915599	+	RNA	INS	-	-	T	rs34556622	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:103915598_103915599insT	ENST00000503650.1	-	0	328																											ATATTTACCTCTTTTTTTTTCA	0.371													6	2	---	---	---	---					
RP11-6N13.1	0	broad.mit.edu	37	5	103916945	103916946	+	RNA	DEL	TG	TG	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:103916945_103916946delTG	ENST00000503650.1	-	0	328																											tccattattctgtgtgtgtgtg	0.347													2	4	---	---	---	---					
RP11-6N13.1	0	broad.mit.edu	37	5	104636222	104636222	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:104636222delC	ENST00000503650.1	-	0	210																											aaaaagttggccacccttgat	0.388													2	4	---	---	---	---					
LOC101927280	101927280	broad.mit.edu	37	5	117808714	117808715	+	RNA	INS	-	-	A	rs147303358	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:117808714_117808715insA	ENST00000506769.1	-	0	2271																											taactttgattaaaaaaaaaat	0.416													5	4	---	---	---	---					
CTC-321K16.1	0	broad.mit.edu	37	5	134923387	134923388	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:134923387_134923388insT	ENST00000514446.1	+	0	413				CTC-321K16.1_ENST00000509372.1_RNA																							ACATGTTGCAATTTTCTTTCTT	0.401													2	4	---	---	---	---					
LOC101926941	101926941	broad.mit.edu	37	5	141853184	141853184	+	RNA	DEL	T	T	-	rs79557211		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:141853184delT	ENST00000443800.1	+	0	243				AC005592.2_ENST00000425963.1_RNA																							CTCTGTAttcttttttttttt	0.483													4	3	---	---	---	---					
CTD-2050E21.1	0	broad.mit.edu	37	5	142890292	142890292	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:142890292delG	ENST00000340585.6	-	0	437																											TCCACATCTAGGAGGAGGTGA	0.463													2	4	---	---	---	---					
RN7SL87P	0	broad.mit.edu	37	5	143520595	143520596	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:143520595_143520596insG	ENST00000497657.2	+	0	152_153																											ctcccaggagtggggggggcca	0.545													3	3	---	---	---	---					
RP11-541P9.3	0	broad.mit.edu	37	5	162760252	162760253	+	RNA	INS	-	-	T	rs72012897		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:162760252_162760253insT	ENST00000503504.1	-	0	355				RP11-541P9.3_ENST00000458002.2_RNA																							AAAtttttttgttttttttttt	0.401													7	4	---	---	---	---					
LINC01411	101928176	broad.mit.edu	37	5	173787021	173787021	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr5:173787021delA	ENST00000510234.1	+	0	82																											TTGAGGGCAGAGGGTAAAGGC	0.478													2	4	---	---	---	---					
RP11-716O23.2	0	broad.mit.edu	37	6	11498562	11498563	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:11498562_11498563insT	ENST00000423149.1	+	0	417																											cagtctttttgtttttttgaga	0.520													2	4	---	---	---	---					
XXbac-BPG13B8.10	0	broad.mit.edu	37	6	29478153	29478154	+	RNA	DEL	AG	AG	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:29478153_29478154delAG	ENST00000436804.1	+	0	697_698																											GTGTGGGGGCAGAGAGAGAGAG	0.530													2	4	---	---	---	---					
LOC102724168	102724168	broad.mit.edu	37	6	82562017	82562018	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:82562017_82562018insG	ENST00000418567.1	-	0	97																											tccagctacttggggggctgca	0.550													2	4	---	---	---	---					
RP1-45N11.1	0	broad.mit.edu	37	6	91066763	91066764	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:91066763_91066764insA	ENST00000569865.1	+	0	687																											attagcagaggaaaaaaaaaga	0.302													2	4	---	---	---	---					
RP11-436D23.1	0	broad.mit.edu	37	6	98614616	98614617	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:98614616_98614617insA	ENST00000607823.1	+	0	352																											aaggcagacccacccttaatct	0.465													3	5	---	---	---	---					
RP11-436D23.1	0	broad.mit.edu	37	6	98738650	98738650	+	RNA	DEL	A	A	-	rs57550585		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:98738650delA	ENST00000607823.1	+	0	560																											actctgtctcaaaaaaaaaaa	0.338													2	4	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107955839	107955840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:107955839_107955840insC	ENST00000317357.5	+	6	2450_2451	c.1791_1792insC	c.(1789-1794)tcccccfs	p.SP597fs		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	597							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCGCGGACTCGCCCCCCGGCTG	0.782													2	4	---	---	---	---					
OSTM1-AS1	100287366	broad.mit.edu	37	6	108475062	108475062	+	RNA	DEL	A	A	-	rs80067693		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:108475062delA	ENST00000441184.1	+	0	143																											tgtaacattcaaaaaaaaaaa	0.279													3	3	---	---	---	---					
LINC00271	100131814	broad.mit.edu	37	6	135827132	135827133	+	RNA	INS	-	-	T	rs111813172		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr6:135827132_135827133insT	ENST00000421378.2	+	0	147					NR_026805.1																						TGGTTTTCAGGTTTTTTTTTTT	0.356													4	5	---	---	---	---					
AC004540.5	0	broad.mit.edu	37	7	26495569	26495570	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:26495569_26495570insG	ENST00000418758.2	+	0	468																											gtttGGGTGGTGGGGGGTGGAG	0.495													2	4	---	---	---	---					
AC004009.3	0	broad.mit.edu	37	7	27406543	27406543	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:27406543delT	ENST00000412413.1	+	0	128																											TGGTAAGGTATTTGACAAATA	0.328													2	4	---	---	---	---					
AC009262.2	0	broad.mit.edu	37	7	34258601	34258601	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:34258601delT	ENST00000446484.1	+	0	93																											ttttcttttcttttttttttt	0.463													3	5	---	---	---	---					
RP4-724E13.2	0	broad.mit.edu	37	7	50942268	50942269	+	RNA	INS	-	-	TGGA	rs71265024	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:50942268_50942269insTGGA	ENST00000420449.1	+	0	24																											gaattgcaagctgaagaactaa	0.366													5	2	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51203955	51203955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:51203955delC	ENST00000395542.2	-	7	1116	c.932delG	c.(931-933)gcfs	p.G311fs	COBL_ENST00000395540.2_Frame_Shift_Del_p.G286fs|COBL_ENST00000265136.7_Frame_Shift_Del_p.G286fs|COBL_ENST00000441453.1_Frame_Shift_Del_p.G286fs			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	286	Pro-rich.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGAGATGCTGCCCAGCGAGAG	0.577													92	57	---	---	---	---					
LINC01446	401337	broad.mit.edu	37	7	53815029	53815029	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:53815029delG	ENST00000380970.2	-	0	1381					NR_038371.1																						acaggagtttgtcctttgaag	0.328													8	5	---	---	---	---					
AC003988.1	0	broad.mit.edu	37	7	79915727	79915728	+	RNA	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:79915727_79915728insC	ENST00000447198.2	-	0	202																											tgtttggtactccccccttact	0.450													2	4	---	---	---	---					
LINC00972	100505913	broad.mit.edu	37	7	85114784	85114784	+	RNA	DEL	T	T	-	rs72124772		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:85114784delT	ENST00000438065.1	+	0	376																											TCCACTGACCTTTTTTTTTTT	0.318													2	4	---	---	---	---					
RP11-142A5.1	0	broad.mit.edu	37	7	91087237	91087237	+	RNA	DEL	A	A	-	rs113457814		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:91087237delA	ENST00000456952.1	-	0	112																											atggaagactaaaaaaaaccc	0.323													3	4	---	---	---	---					
LOC101928036	101928036	broad.mit.edu	37	7	112604578	112604578	+	RNA	DEL	G	G	-	rs6973345	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:112604578delG	ENST00000451962.1	-	0	383																											AAATAAAAAAGGAATAACACC	0.323													2	4	---	---	---	---					
RP11-328J2.1	0	broad.mit.edu	37	7	119452941	119452942	+	RNA	DEL	GC	GC	-	rs9641630	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:119452941_119452942delGC	ENST00000426413.1	-	0	83																											gtgtgtgtgtgcgtgtagctat	0.297													2	4	---	---	---	---					
RP11-328J2.1	0	broad.mit.edu	37	7	119487115	119487118	+	RNA	DEL	ACAC	ACAC	-	rs35851838		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:119487115_119487118delACAC	ENST00000426413.1	-	0	83																											tTacacacaaacacacacacacac	0.309													3	4	---	---	---	---					
LOC349160	349160	broad.mit.edu	37	7	136719925	136719925	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:136719925delC	ENST00000439694.1	-	0	164				AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA																							tttcaaacctccacaataaaa	0.338													2	4	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149524893	149524894	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr7:149524893_149524894insG	ENST00000378016.2	+	0	14804_14805							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)			CAGGTGGCCCCGGGGGAGCTGG	0.649													2	4	---	---	---	---					
FAM85B	619431	broad.mit.edu	37	8	8045136	8045137	+	RNA	DEL	GA	GA	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:8045136_8045137delGA	ENST00000519726.2	-	0	420																											gagggagagggagagagagaga	0.545													2	4	---	---	---	---					
RP1-84O15.2	0	broad.mit.edu	37	8	34141205	34141206	+	RNA	DEL	AA	AA	-	rs73672186		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:34141205_34141206delAA	ENST00000522460.1	+	0	202																											Ctttttttttaaaaaaaaaaaa	0.297													2	4	---	---	---	---					
RP11-962G15.1	0	broad.mit.edu	37	8	36498101	36498102	+	RNA	DEL	CA	CA	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:36498101_36498102delCA	ENST00000524132.1	-	0	484																											tgcacgcatgcacacacacaca	0.322													2	4	---	---	---	---					
LOC100507420	100507420	broad.mit.edu	37	8	37315370	37315372	+	RNA	DEL	TTA	TTA	-	rs113263499	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:37315370_37315372delTTA	ENST00000522718.1	-	0	780																											tgagttgttgttattgttgttgt	0.345													2	4	---	---	---	---					
RP11-346L1.2	0	broad.mit.edu	37	8	37531547	37531547	+	RNA	DEL	T	T	-	rs75730943		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:37531547delT	ENST00000519978.1	-	0	358																											ttttttcgtcttttttttttt	0.488													3	4	---	---	---	---					
CTD-3046C4.1	0	broad.mit.edu	37	8	64329732	64329732	+	RNA	DEL	T	T	-	rs68102500		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:64329732delT	ENST00000521221.1	-	0	491																											TTGGATTCAGTTTTTTTCAGC	0.413													5	3	---	---	---	---					
CASC9	101805492	broad.mit.edu	37	8	76143941	76143942	+	RNA	INS	-	-	T	rs139395680	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:76143941_76143942insT	ENST00000504531.2	-	0	209																											gatgtttatagttttttttctt	0.421													3	3	---	---	---	---					
AF121898.3	0	broad.mit.edu	37	8	88756465	88756465	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:88756465delA	ENST00000518494.1	-	0	178				AF121898.3_ENST00000440763.2_RNA																							GTGAACAGGCAAAAGATAACC	0.264													2	4	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94631291	94631292	+	RNA	INS	-	-	A	rs142586675		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:94631291_94631292insA	ENST00000501400.1	-	0	948					NR_033858.1																						GACAAAACTTTAAAAAAAAAAA	0.317													4	2	---	---	---	---					
ZFPM2-AS1	102723356	broad.mit.edu	37	8	106932269	106932270	+	RNA	DEL	CC	CC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:106932269_106932270delCC	ENST00000524045.2	-	0	153				RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA																							acaacaagaacctatctgctgc	0.356													6	2	---	---	---	---					
RP11-369K17.1	0	broad.mit.edu	37	8	121951414	121951415	+	RNA	INS	-	-	A	rs111826513	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:121951414_121951415insA	ENST00000517739.1	+	0	95																											CTAGTCCGCCTAAAAACTGAGT	0.416													3	3	---	---	---	---					
RP11-3G20.2	0	broad.mit.edu	37	8	122710244	122710245	+	RNA	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:122710244_122710245insC	ENST00000458107.3	+	0	251																											acatgcccacacccccatttag	0.371													2	4	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127695587	127695588	+	RNA	INS	-	-	A	rs71796687		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:127695587_127695588insA	ENST00000519880.1	+	0	156																											gactccatctcaaaaaaaaaaa	0.411													2	4	---	---	---	---					
RP11-149P24.1	0	broad.mit.edu	37	8	137060196	137060198	+	RNA	DEL	CTT	CTT	-	rs77442254		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:137060196_137060198delCTT	ENST00000523150.1	+	0	159																											cctgctcctcctttaatctctct	0.433													4	3	---	---	---	---					
RP11-149P24.1	0	broad.mit.edu	37	8	137173547	137173548	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:137173547_137173548insA	ENST00000523150.1	+	0	330																											ACAATAACAACaaaaaaaaaag	0.406													2	4	---	---	---	---					
RP11-431D12.1	0	broad.mit.edu	37	8	137524830	137524830	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:137524830delG	ENST00000523232.1	+	0	55																											AATGCTGCCTGCACAGGCCCA	0.433													2	4	---	---	---	---					
RP11-706C16.8	0	broad.mit.edu	37	8	143891992	143891993	+	RNA	INS	-	-	C	rs71901785		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr8:143891992_143891993insC	ENST00000510610.2	+	0	216																											ccctctctccacccccccctct	0.559													2	4	---	---	---	---					
RFX3-AS1	101929302	broad.mit.edu	37	9	3627085	3627085	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:3627085delG	ENST00000423112.2	+	0	394																											ttcctgggcagggtcatacaa	0.552													2	4	---	---	---	---					
LINC01239	441389	broad.mit.edu	37	9	22671367	22671368	+	RNA	INS	-	-	GTGTGT	rs74175272	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:22671367_22671368insGTGTGT	ENST00000436786.1	+	0	97					NR_038977.1																						ATATATACTTCgtgtgtgtgtg	0.371													4	7	---	---	---	---					
RP11-18A15.1	0	broad.mit.edu	37	9	26758849	26758849	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:26758849delC	ENST00000523363.1	+	0	354																											acaagctcctccctgggcggg	0.453													2	4	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68408198	68408199	+	RNA	INS	-	-	T	rs149448637	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:68408198_68408199insT	ENST00000417843.2	-	0	67																											tgttcttcaaaaaaaagaagaa	0.322													5	4	---	---	---	---					
LOC101927358	101927358	broad.mit.edu	37	9	76993335	76993336	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:76993335_76993336insA	ENST00000423681.1	+	0	540																											CTAAAATCCTCAAAAAAAAAGC	0.297													2	4	---	---	---	---					
C9orf173	441476	broad.mit.edu	37	9	140146299	140146300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr9:140146299_140146300insC	ENST00000388931.3	+	2	246_247	c.220_221insC	c.(220-222)cccfs	p.P74fs	C9orf173_ENST00000412566.1_Frame_Shift_Ins_p.P74fs	NM_001004353.3|NM_001256699.1|NM_001256700.1|NM_001256701.1	NP_001004353.2|NP_001243628.1|NP_001243629.1|NP_001243630.1	Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	74										kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						ACAGACGGGCACCCCCCAGGAG	0.634													2	4	---	---	---	---					
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81518103	81518109	+	RNA	DEL	GCAGTGA	GCAGTGA	-	rs4040175		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:81518103_81518109delGCAGTGA	ENST00000601369.1	-	0	59				RP11-119F19.2_ENST00000596088.1_RNA|RP11-119F19.2_ENST00000600376.1_RNA																							agtaaaggctgcagtgagcagtgagct	0.527													5	6	---	---	---	---					
NUTM2A-AS1	728190	broad.mit.edu	37	10	89012954	89012954	+	RNA	DEL	A	A	-	rs80242023	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:89012954delA	ENST00000446751.1	-	0	572				NUTM2A-AS1_ENST00000433920.1_RNA|NUTM2A-AS1_ENST00000456104.1_RNA|NUTM2A-AS1_ENST00000447424.1_RNA|NUTM2A-AS1_ENST00000433530.1_RNA|NUTM2A-AS1_ENST00000451940.2_RNA																							aaagccatggaaaaaaaagta	0.418													2	4	---	---	---	---					
CASC2	255082	broad.mit.edu	37	10	119876228	119876229	+	RNA	DEL	GT	GT	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr10:119876228_119876229delGT	ENST00000435944.1	+	0	452				CASC2_ENST00000414722.1_RNA|CASC2_ENST00000439517.1_RNA|CASC2_ENST00000454857.1_RNA	NR_026939.1																						GCACGCACACgtgtgtgtgtgt	0.520													2	4	---	---	---	---					
PTDSS2	81490	broad.mit.edu	37	11	460282	460282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:460282delC	ENST00000308020.5	+	2	454	c.278delC	c.(277-279)acfs	p.T93fs		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	93						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCCTACAACACCAAGAGGTAA	0.597													2	4	---	---	---	---					
LOC100506082	100506082	broad.mit.edu	37	11	4214041	4214042	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:4214041_4214042insA	ENST00000525365.1	+	0	65					NR_047550.1																						CTTGTCCCCCCATCAGTGTGCG	0.564													5	3	---	---	---	---					
BBOX1-AS1	103695435	broad.mit.edu	37	11	27171135	27171135	+	RNA	DEL	G	G	-	rs1812803	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:27171135delG	ENST00000530430.1	-	0	667				RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA																							aaaaaaaaaagaggagggctc	0.413													2	4	---	---	---	---					
RP1-65P5.1	0	broad.mit.edu	37	11	32363512	32363512	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:32363512delA	ENST00000525689.1	-	0	122																											AAGTCAGAAGAAAAAAAAAAA	0.368													3	3	---	---	---	---					
RP11-613D13.4	0	broad.mit.edu	37	11	44011044	44011044	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:44011044delT	ENST00000526408.1	+	0	461																											GGCCATGTGGTTACTGCAGGT	0.597													2	4	---	---	---	---					
LOC283194	283194	broad.mit.edu	37	11	58812675	58812676	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:58812675_58812676insA	ENST00000533954.1	-	0	507				RP11-142C4.6_ENST00000532098.1_RNA	NR_033853.1																						catacatgaccaaaaAAATGGA	0.302													3	3	---	---	---	---					
SF3B2	10992	broad.mit.edu	37	11	65830907	65830908	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:65830907_65830908insG	ENST00000528302.1	+	17	2125_2126	c.2071_2072insG	c.(2071-2073)gggfs	p.G691fs	SF3B2_ENST00000322535.6_Frame_Shift_Ins_p.G708fs			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	708					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCGGACCCCTTGGGGGGAACTG	0.431													7	113	---	---	---	---					
RP11-258O13.1	0	broad.mit.edu	37	11	79323025	79323025	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:79323025delA	ENST00000526851.1	-	0	319																											tgcTGGGTTTACCCCTTTACT	0.398													2	4	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89410618	89410619	+	RNA	INS	-	-	T	rs72273177	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:89410618_89410619insT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ttctttttctgttttttttttg	0.302													3	6	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112403612	112403613	+	RNA	INS	-	-	A	rs58809001		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:112403612_112403613insA	ENST00000528496.1	+	0	231																											gtagaatgaccaaaaaaaaaaa	0.416													2	4	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115634711	115634711	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:115634711delA	ENST00000539305.1	+	0	163																											AAAGTTTTCTAATTCAACTCT	0.468													2	4	---	---	---	---					
AP000797.3	0	broad.mit.edu	37	11	115681357	115681357	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:115681357delT	ENST00000539305.1	+	0	163																											CTTGAGGACCTTTTAAAAGCC	0.453													2	4	---	---	---	---					
USP2-AS1	100499227	broad.mit.edu	37	11	119347956	119347957	+	RNA	INS	-	-	G	rs111820318	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:119347956_119347957insG	ENST00000498979.2	+	0	440				USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA	NR_034160.1																						tgtgtcagcgcgggggGTCTGT	0.594													3	3	---	---	---	---					
MIR100HG	399959	broad.mit.edu	37	11	121960635	121960635	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:121960635delT	ENST00000531381.1	-	0	2545																											AGCTCCCTGGTTACTGCCCAG	0.433													2	4	---	---	---	---					
RP11-820L6.1	0	broad.mit.edu	37	11	122157423	122157426	+	RNA	DEL	AGAA	AGAA	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:122157423_122157426delAGAA	ENST00000527474.1	-	0	898																											AATgagagagagaaagaaagaaag	0.304													2	4	---	---	---	---					
KIRREL3-AS3	283165	broad.mit.edu	37	11	126873723	126873724	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:126873723_126873724insA	ENST00000525678.1	+	0	919_920					NR_040078.1																						AGCCCCTGGCCCGCCCCCCACC	0.723											OREG0021489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
LOC101929473	101929473	broad.mit.edu	37	11	126968230	126968231	+	RNA	DEL	CA	CA	-	rs72363253		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:126968230_126968231delCA	ENST00000527317.1	+	0	116																											TGTGcacatgcacacacacaca	0.386													4	5	---	---	---	---					
RP11-469N6.1	0	broad.mit.edu	37	11	134610131	134610132	+	RNA	INS	-	-	GTGTGTA			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr11:134610131_134610132insGTGTGTA	ENST00000513405.1	+	0	947																											tgatgcatggtgtgtgtagtgt	0.520													3	3	---	---	---	---					
RP11-1038A11.3	0	broad.mit.edu	37	12	5441992	5441993	+	RNA	INS	-	-	AG	rs3086951	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:5441992_5441993insAG	ENST00000537192.1	+	0	219																											AAGGGGGCGGTAGGAAGTCCCC	0.584													3	4	---	---	---	---					
RP11-313F23.4	0	broad.mit.edu	37	12	34346373	34346374	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:34346373_34346374insG	ENST00000545923.2	-	0	347																											tcaaTATTTCTGGAAAAAAAAT	0.401													2	4	---	---	---	---					
RP11-313F23.4	0	broad.mit.edu	37	12	34351512	34351512	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:34351512delC	ENST00000545923.2	-	0	347																											atggctattactaaaaagtca	0.398													3	6	---	---	---	---					
RP11-446N19.1	0	broad.mit.edu	37	12	47025118	47025118	+	RNA	DEL	A	A	-	rs67139875		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:47025118delA	ENST00000607353.1	+	0	287																											actccatctcaaaaaaaaaaa	0.423													3	2	---	---	---	---					
RP11-314D7.4	0	broad.mit.edu	37	12	74052213	74052215	+	RNA	DEL	CTT	CTT	-	rs79132857		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:74052213_74052215delCTT	ENST00000549058.1	-	0	97																											gtcctccttccttcttctaaact	0.404													3	5	---	---	---	---					
KCNC2	3747	broad.mit.edu	37	12	75601247	75601248	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:75601247_75601248insG	ENST00000549446.1	-	2	1196_1197	c.516_517insC	c.(514-519)ccacctfs	p.P173fs	KCNC2_ENST00000550433.1_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000548513.1_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000298972.1_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000540018.1_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000341669.3_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000350228.2_Frame_Shift_Ins_p.P173fs|KCNC2_ENST00000393288.2_Frame_Shift_Ins_p.P173fs	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	173					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCAATGAGGTCGGGGGTCTCGA	0.713													13	49	---	---	---	---					
PPFIA2	8499	broad.mit.edu	37	12	81839421	81839421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:81839421delG	ENST00000550584.2	-	5	779	c.484delC	c.(484-486)agfs	p.Q162fs	PPFIA2_ENST00000549325.1_Frame_Shift_Del_p.Q144fs|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000552948.1_Frame_Shift_Del_p.Q162fs|PPFIA2_ENST00000407050.4_Frame_Shift_Del_p.Q88fs|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.Q144fs|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Frame_Shift_Del_p.Q162fs|PPFIA2_ENST00000443686.3_Frame_Shift_Del_p.Q88fs|PPFIA2_ENST00000549396.1_Frame_Shift_Del_p.Q162fs|PPFIA2_ENST00000550359.2_Frame_Shift_Del_p.Q9fs	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	88										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GAGGGAGACTGGGCTTGCCGT	0.433													23	95	---	---	---	---					
RP11-13A1.3	0	broad.mit.edu	37	12	89492306	89492307	+	RNA	INS	-	-	CC			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:89492306_89492307insCC	ENST00000549278.1	-	0	282																											TTAACGCTAGACCCCAATAAAT	0.376													2	4	---	---	---	---					
RP11-13A1.3	0	broad.mit.edu	37	12	89628810	89628811	+	RNA	INS	-	-	TG	rs35459687	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:89628810_89628811insTG	ENST00000549278.1	-	0	144																											ctcacagaatatgtgtgtgtgt	0.406													3	6	---	---	---	---					
RP11-693J15.4	0	broad.mit.edu	37	12	92835018	92835019	+	RNA	INS	-	-	TCAAGCTTGAATA	rs111663497	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:92835018_92835019insTCAAGCTTGAATA	ENST00000508671.1	+	0	305																											TCTCATGATACTCAAGCTTGAA	0.431													2	4	---	---	---	---					
RP11-511B23.2	0	broad.mit.edu	37	12	93466104	93466105	+	RNA	INS	-	-	AAA	rs33921010	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:93466104_93466105insAAA	ENST00000550324.1	-	0	85				RP11-511B23.2_ENST00000549930.1_RNA																							AATTAGGGGTGCTGTGAGAGGA	0.450													3	3	---	---	---	---					
RP11-1060G2.1	0	broad.mit.edu	37	12	94311478	94311478	+	RNA	DEL	T	T	-	rs3030300		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:94311478delT	ENST00000550687.1	-	0	59																											tgtAGAAACCTTTTTTTTTTA	0.363													2	4	---	---	---	---					
RP11-357K6.3	0	broad.mit.edu	37	12	119333209	119333210	+	RNA	INS	-	-	CA	rs149183744	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:119333209_119333210insCA	ENST00000544515.1	-	0	95																											cacaatagatgcacacacacac	0.381													2	4	---	---	---	---					
LOC101927592	101927592	broad.mit.edu	37	12	127424843	127424843	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:127424843delA	ENST00000512624.2	-	0	685																											tgaagacagtaaaaacttcag	0.388													3	6	---	---	---	---					
RIMBP2	23504	broad.mit.edu	37	12	130926866	130926866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr12:130926866delC	ENST00000261655.4	-	8	1143	c.980delG	c.(979-981)gafs	p.G327fs	RIMBP2_ENST00000535703.1_Frame_Shift_Del_p.G235fs|RIMBP2_ENST00000536002.1_Frame_Shift_Del_p.G235fs	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	327	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTCACCGTTCCCCATCCTGG	0.552													7	42	---	---	---	---					
RP11-141M1.3	0	broad.mit.edu	37	13	34112772	34112773	+	RNA	INS	-	-	T	rs11303023		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:34112772_34112773insT	ENST00000454681.2	-	0	91																											agagcccagtattttttttttt	0.337													2	4	---	---	---	---					
LINC00457	100874179	broad.mit.edu	37	13	35165214	35165214	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:35165214delT	ENST00000605909.1	+	0	170				RP11-266E6.3_ENST00000606365.1_lincRNA																							AGAAACTAACTTTTTTTTTCC	0.318													3	3	---	---	---	---					
RP11-442J21.1	0	broad.mit.edu	37	13	45234350	45234350	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:45234350delG	ENST00000426509.1	+	0	57																											atgtgggtgtggggcagtcat	0.572													2	4	---	---	---	---					
LINC00402	100507612	broad.mit.edu	37	13	74830826	74830827	+	RNA	DEL	TG	TG	-	rs72176130		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:74830826_74830827delTG	ENST00000419499.1	+	0	296																											GAGTAGAGCTtgtgtgtgtgtg	0.431													3	5	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	79023487	79023488	+	RNA	DEL	TC	TC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:79023487_79023488delTC	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA																							AGTCATtctttctctctctctc	0.411													3	5	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	79075574	79075575	+	RNA	DEL	CA	CA	-	rs112445083		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:79075574_79075575delCA	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA																							TGGAAATGTCCACACACACACA	0.465													2	4	---	---	---	---					
MIR4500HG	642345	broad.mit.edu	37	13	88291751	88291752	+	RNA	INS	-	-	T	rs59086386		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr13:88291751_88291752insT	ENST00000436290.2	-	0	128					NR_033829.1																						TTTTCTAGGTATTTTTTTTTTT	0.332													4	2	---	---	---	---					
RP11-314P15.2	0	broad.mit.edu	37	14	26308627	26308627	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:26308627delA	ENST00000546412.1	-	0	258																											AAGTTTAGAgaagcaatctta	0.328													2	4	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44516378	44516378	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:44516378delA	ENST00000553827.1	-	0	194																											atttgtaaccaaaaaagagcc	0.383													2	4	---	---	---	---					
AL163953.3	0	broad.mit.edu	37	14	53801084	53801084	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:53801084delT	ENST00000435322.1	+	0	519																											aatcttggtgttgtacattct	0.358													2	4	---	---	---	---					
LINC01269	103695436	broad.mit.edu	37	14	71167236	71167236	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:71167236delA	ENST00000553682.1	+	0	365																											AATCCTTCCTAGGAATAGGCA	0.493													2	4	---	---	---	---					
RP11-114N19.3	0	broad.mit.edu	37	14	81614791	81614792	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:81614791_81614792insG	ENST00000557775.1	-	0	495																											cagaatAAAAAAAAAAAATACT	0.351													2	4	---	---	---	---					
CTD-2128A3.2	0	broad.mit.edu	37	14	85933251	85933251	+	RNA	DEL	T	T	-	rs77235001		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr14:85933251delT	ENST00000557547.1	-	0	110																											TTATCATGGGTTTTTTCTTCG	0.448													4	5	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20624216	20624216	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:20624216delG	ENST00000428453.1	-	0	4041																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTTCTCTGTGGAGACAGACA	0.318													2	4	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22304229	22304229	+	RNA	DEL	C	C	-	rs113409138		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:22304229delC	ENST00000558896.1	+	0	99																											acaaatgtctccccatatccc	0.388													3	3	---	---	---	---					
PWRN1	791114	broad.mit.edu	37	15	24824396	24824396	+	RNA	DEL	G	G	-	rs34311380		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:24824396delG	ENST00000568609.1	+	0	1126					NR_026646.1																						gagggaaaaaggttacatttg	0.358													5	2	---	---	---	---					
GABRG3	2567	broad.mit.edu	37	15	27777956	27777956	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:27777956delT	ENST00000333743.6	+	10	1587	c.1333delT	c.(1333-1335)ccfs	p.S445fs	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	445					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGACTCGTACTCCCGGGTCTT	0.478													11	99	---	---	---	---					
DPH6-AS1	100507466	broad.mit.edu	37	15	36122962	36122965	+	RNA	DEL	CATA	CATA	-	rs71856077		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:36122962_36122965delCATA	ENST00000501169.2	+	0	462					NR_038251.1																						catcaaactccataCATAACTGGA	0.377													4	7	---	---	---	---					
RP11-1129I3.1	0	broad.mit.edu	37	15	56885059	56885060	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:56885059_56885060insA	ENST00000562300.1	-	0	306																											atctgaaaaagaaaaaaaagga	0.356													2	4	---	---	---	---					
CGNL1	84952	broad.mit.edu	37	15	57731136	57731136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:57731136delA	ENST00000281282.5	+	2	1017	c.939delA	c.(937-939)ttfs	p.L314fs		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	314	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACAGGTTTTTACTGGATGATC	0.522													10	68	---	---	---	---					
RP11-507B12.2	0	broad.mit.edu	37	15	61733282	61733283	+	RNA	INS	-	-	TCTATTCCCTGATGTCC	rs35588431	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:61733282_61733283insTCTATTCCCTGATGTCC	ENST00000559783.1	-	0	186																											CCTGGGCTTCGTCTATTCCCTG	0.490													2	4	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63089468	63089468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:63089468delT	ENST00000561311.1	+	47	6331	c.6101delT	c.(6100-6102)ctfs	p.L2034fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.L2034fs			Q9Y4G6	TLN2_HUMAN	talin 2	2034					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACGAAACTACTTGTGTCAGGA	0.612													12	68	---	---	---	---					
RP11-798K3.2	0	broad.mit.edu	37	15	67287205	67287206	+	RNA	INS	-	-	G	rs111909191		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:67287205_67287206insG	ENST00000558071.1	-	0	114																											aaaaaaaaaaaaaaaaaagaaa	0.366													4	2	---	---	---	---					
PEAK1	79834	broad.mit.edu	37	15	77407367	77407380	+	Frame_Shift_Del	DEL	GGCTCCTCTGCTTC	GGCTCCTCTGCTTC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:77407367_77407380delGGCTCCTCTGCTTC	ENST00000560626.2	-	7	4834_4847	c.4359_4372delGAAGCAGAGGAGCC	c.(4357-4374)aaacfs	p.KKQRSH1453fs	PEAK1_ENST00000312493.4_Frame_Shift_Del_p.KKQRSH1453fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1453	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACCACAACGTGGCTCCTCTGCTTCTTGCTCATGA	0.505													18	246	---	---	---	---					
CTD-2034I4.1	0	broad.mit.edu	37	15	81750914	81750915	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:81750914_81750915insT	ENST00000559211.1	+	0	98																											ccacctctgagttttttttttt	0.317													2	4	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													4	9	---	---	---	---					
RP11-386M24.9	0	broad.mit.edu	37	15	93159888	93159888	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:93159888delC	ENST00000607766.1	+	0	168																											AGGCAAGTTGCGGTACCCGCT	0.592													2	4	---	---	---	---					
RP11-739G5.1	0	broad.mit.edu	37	15	94236764	94236765	+	RNA	INS	-	-	G	rs56768280	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr15:94236764_94236765insG	ENST00000554318.2	+	0	324																											tctaggcacatggatactttag	0.332													3	3	---	---	---	---					
CTA-481E9.4	0	broad.mit.edu	37	16	18095953	18095953	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:18095953delG	ENST00000567304.1	-	0	144																											ggatgggactggagataatta	0.373													2	4	---	---	---	---					
CTA-481E9.3	0	broad.mit.edu	37	16	18100158	18100159	+	RNA	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:18100158_18100159insG	ENST00000563866.1	-	0	48				CTA-481E9.4_ENST00000567304.1_lincRNA																							ctcagcactttggggggctgaT	0.441													2	4	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32830526	32830526	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:32830526delC	ENST00000569859.1	+	0	373																											ctgtaacttgcttttagcctt	0.294													4	5	---	---	---	---					
RP11-467J12.4	0	broad.mit.edu	37	16	53079027	53079028	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:53079027_53079028insT	ENST00000562178.1	-	0	192																											tgtttgttttgtttttttgtag	0.520													2	4	---	---	---	---					
RP11-410D17.2	0	broad.mit.edu	37	16	59124912	59124913	+	RNA	INS	-	-	CATC	rs149854418	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:59124912_59124913insCATC	ENST00000500117.1	+	0	749																											AAATAAAATTTcatccatccat	0.411													5	6	---	---	---	---					
LOC101927580	101927580	broad.mit.edu	37	16	59963511	59963511	+	RNA	DEL	G	G	-	rs8059748	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:59963511delG	ENST00000568279.1	+	0	173																											ttttttttttgtctctcaggt	0.428													2	4	---	---	---	---					
AC009110.1	0	broad.mit.edu	37	16	62630925	62630934	+	RNA	DEL	ACACACACAC	ACACACACAC	-	rs67998258		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:62630925_62630934delACACACACAC	ENST00000415422.1	+	0	193																											Ccacacacatacacacacacacacacacac	0.352													2	4	---	---	---	---					
RP11-525K10.1	0	broad.mit.edu	37	16	80142638	80142639	+	RNA	INS	-	-	C	rs72528125	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr16:80142638_80142639insC	ENST00000567851.1	+	0	405																											gttcctgggttccctccagaga	0.446													2	4	---	---	---	---					
ALOX12P2	245	broad.mit.edu	37	17	6805501	6805501	+	RNA	DEL	A	A	-	rs77191743		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:6805501delA	ENST00000574727.1	+	0	4316																				endometrium(1)	1						gtctcaagagaaaaaaaaaaa	0.507													3	2	---	---	---	---					
LINC00670	284034	broad.mit.edu	37	17	12493124	12493125	+	RNA	DEL	AG	AG	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:12493124_12493125delAG	ENST00000313495.2	+	0	458					NR_034144.1|NR_034145.1																						aaagagaagcagagagagagag	0.441													3	6	---	---	---	---					
RP11-260A9.6	0	broad.mit.edu	37	17	25319139	25319140	+	RNA	INS	-	-	AAG	rs113755612	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:25319139_25319140insAAG	ENST00000580686.1	-	0	117																											CTCCACACAATAAGGTCACAGG	0.599													2	4	---	---	---	---					
RP11-697E22.2	0	broad.mit.edu	37	17	36035616	36035617	+	RNA	INS	-	-	G	rs145765614	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:36035616_36035617insG	ENST00000586163.1	+	0	590				RP11-697E22.2_ENST00000586950.1_RNA																							ACCCTAAGCCCTGAATGGAttt	0.525													4	3	---	---	---	---					
LOC440446	440446	broad.mit.edu	37	17	49414918	49414919	+	RNA	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:49414918_49414919insC	ENST00000441895.2	+	0	843_844																											aagggccaatgccccctaatac	0.465													2	4	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													3	3	---	---	---	---					
LINC00667	339290	broad.mit.edu	37	18	5245411	5245412	+	RNA	INS	-	-	AGAG	rs10689221	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:5245411_5245412insAGAG	ENST00000582008.1	+	0	2883_2884					NR_015389.1																						GAGAGAGAGATAGATACCACAA	0.426													3	3	---	---	---	---					
GACAT2	100287082	broad.mit.edu	37	18	8698701	8698701	+	RNA	DEL	A	A	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:8698701delA	ENST00000579368.1	-	0	552																											aaatgcattgaaaatctccaa	0.383													2	4	---	---	---	---					
GATA6-AS1	100128893	broad.mit.edu	37	18	19746914	19746916	+	RNA	DEL	AAC	AAC	-	rs150639922	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:19746914_19746916delAAC	ENST00000583490.1	-	0	1730_1732					NR_102763.1																						AACCAACATAaacaacaacaaca	0.389													2	4	---	---	---	---					
RP11-449D8.5	0	broad.mit.edu	37	18	22420896	22420897	+	RNA	DEL	TG	TG	-	rs138346122		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:22420896_22420897delTG	ENST00000582650.1	+	0	235																											tgtatgtggctgtgtgtgtgtg	0.450													3	4	---	---	---	---					
RP11-449D8.5	0	broad.mit.edu	37	18	22447233	22447236	+	RNA	DEL	TGAG	TGAG	-	rs66740973		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:22447233_22447236delTGAG	ENST00000582650.1	+	0	235																											TGGAGTTGTCTGAGTGACCACCAG	0.525													6	4	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37333443	37333444	+	RNA	INS	-	-	G	rs35536226		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:37333443_37333444insG	ENST00000591629.1	-	0	250					NR_024391.1																						ctcaccaggccgggggagaact	0.569													2	4	---	---	---	---					
RP11-157P23.2	0	broad.mit.edu	37	18	45060069	45060070	+	RNA	INS	-	-	AG	rs142066124	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:45060069_45060070insAG	ENST00000565127.1	+	0	275																											TTTAAATGACCAGAGAGAGAGA	0.391													2	4	---	---	---	---					
RP11-173L6.1	0	broad.mit.edu	37	18	73574339	73574340	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr18:73574339_73574340insA	ENST00000581971.1	-	0	384																											tagaaaagaagaaaaaaaaaaa	0.426													2	4	---	---	---	---					
LOC284395	284395	broad.mit.edu	37	19	29886784	29886785	+	RNA	DEL	CA	CA	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:29886784_29886785delCA	ENST00000582581.1	-	0	1398					NR_040029.1																						tacaagtgcgcacacacacaca	0.520													3	4	---	---	---	---					
AC011513.4	0	broad.mit.edu	37	19	42289955	42289955	+	RNA	DEL	T	T	-	rs11305951	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:42289955delT	ENST00000601409.1	-	0	383																											GTAATGGGTAttttcttttct	0.408													2	4	---	---	---	---					
EMC10	284361	broad.mit.edu	37	19	50985131	50985132	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:50985131_50985132insG	ENST00000376918.3	+	7	738_739	c.692_693insG	c.(691-693)cggfs	p.R231fs	CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Intron|EMC10_ENST00000598585.1_Intron	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10									p.A234fs*56(1)									CACATCATCCTGGGGGGGGCCG	0.738													3	4	---	---	---	---					
LOC101928517	101928517	broad.mit.edu	37	19	51677134	51677134	+	RNA	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:51677134delG	ENST00000600074.1	-	0	493																											tggagcctttgggaagggcag	0.607													4	5	---	---	---	---					
ZNF582-AS1	386758	broad.mit.edu	37	19	56908462	56908462	+	RNA	DEL	T	T	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr19:56908462delT	ENST00000587979.1	+	0	546					NR_037159.1																						CTCTGAGGACtttttttttta	0.443													2	4	---	---	---	---					
SNAP25-AS1	100131208	broad.mit.edu	37	20	10187554	10187555	+	RNA	INS	-	-	T			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:10187554_10187555insT	ENST00000603542.1	-	0	518				SNAP25-AS1_ENST00000426491.1_RNA|SNAP25-AS1_ENST00000451151.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000605592.1_RNA	NR_040710.1																						cagatacgccatttttttgcat	0.312													3	5	---	---	---	---					
LINC00493	388789	broad.mit.edu	37	20	18548294	18548294	+	RNA	DEL	C	C	-	rs56263419		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:18548294delC	ENST00000411646.1	+	0	177					NR_015432.1																						GATGAGAGTTCCCCGGGGGTC	0.517													4	2	---	---	---	---					
RP4-610C12.1	0	broad.mit.edu	37	20	29562213	29562215	+	RNA	DEL	GTG	GTG	-	rs73620364		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:29562213_29562215delGTG	ENST00000445151.1	-	0	284																											AGCTCCCTCTGTGGTAAGGCTGC	0.522													4	3	---	---	---	---					
ITCH	83737	broad.mit.edu	37	20	33050003	33050004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:33050003_33050004insC	ENST00000374864.4	+	14	1614_1615	c.1401_1402insC	c.(1399-1404)gacccgfs	p.DP467fs	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Frame_Shift_Ins_p.DP357fs|ITCH_ENST00000262650.6_Frame_Shift_Ins_p.DP508fs	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	508	Required for interaction with FYN.|WW 3.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CCTATATAGATCCCCGCACAGG	0.356													12	112	---	---	---	---					
BLCAP	10904	broad.mit.edu	37	20	36128158	36128159	+	RNA	DEL	AC	AC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:36128158_36128159delAC	ENST00000411780.1	-	0	128																											aaaaaggcatacacacacacac	0.327													2	4	---	---	---	---					
RP5-1031J8.1	0	broad.mit.edu	37	20	38419598	38419598	+	RNA	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr20:38419598delC	ENST00000444436.1	+	0	211																											catggtgaaaccccgtctcta	0.527													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11068974	11068974	+	RNA	DEL	T	T	-	rs147179649		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:11068974delT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caagcaaagattttttaataa	0.279													4	9	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11089518	11089519	+	RNA	INS	-	-	A			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:11089518_11089519insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gactctgtctcaaaaaaacaga	0.480													3	4	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11182896	11182897	+	RNA	DEL	TC	TC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:11182896_11182897delTC	ENST00000603265.1	+	0	231																											attaagaatttctgtttattaa	0.342													2	4	---	---	---	---					
AP000233.4	0	broad.mit.edu	37	21	26693946	26693947	+	RNA	DEL	CT	CT	-	rs79612021		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:26693946_26693947delCT	ENST00000409758.1	-	0	89																											CTTTGTCCTCCTCTTTTCTTTT	0.401													4	4	---	---	---	---					
KRTAP24-1	643803	broad.mit.edu	37	21	31654909	31654909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:31654909delG	ENST00000340345.4	-	1	367	c.342delC	c.(340-342)ccfs	p.P114fs		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	114						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						agctggggctggggctgacgt	0.562													9	99	---	---	---	---					
AP000290.7	0	broad.mit.edu	37	21	34529781	34529782	+	RNA	DEL	TC	TC	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:34529781_34529782delTC	ENST00000450830.1	+	0	114																											tcctctctcttctctctctctc	0.554													2	4	---	---	---	---					
LOC400867	400867	broad.mit.edu	37	21	40304064	40304065	+	RNA	INS	-	-	A	rs140949272	by1000genomes	TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr21:40304064_40304065insA	ENST00000380931.2	-	0	620																											ttctttttgagcagggtctcac	0.470													5	8	---	---	---	---					
FLJ41941	100192420	broad.mit.edu	37	22	18512894	18512895	+	RNA	INS	-	-	TT			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chr22:18512894_18512895insTT	ENST00000443243.1	+	0	170					NR_024417.1																						cctggctaatgtgtggtgtgtg	0.525													2	4	---	---	---	---					
ARSF	416	broad.mit.edu	37	X	3030330	3030330	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:3030330delC	ENST00000381127.1	+	11	1727	c.1506delC	c.(1504-1506)aafs	p.N502fs	ARSF_ENST00000359361.2_Frame_Shift_Del_p.N502fs|ARSF_ENST00000537104.1_Frame_Shift_Del_p.N502fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	502						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				CCTACCACAACCCCCCTCTGC	0.542													10	40	---	---	---	---					
RP11-157D23.2	0	broad.mit.edu	37	X	39285505	39285506	+	RNA	DEL	GT	GT	-	rs66789055		TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:39285505_39285506delGT	ENST00000438867.1	-	0	70																											ACgtgtgtgagtgtgtgtgtgt	0.480													2	4	---	---	---	---					
MCF2	4168	broad.mit.edu	37	X	138728991	138728991	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z030-01A-01W-0746-08	TCGA-17-Z030-11A-01W-0746-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e35e27e8-6cc5-495b-9ae8-89f65d94ebed	beb4d02a-8a80-4ad1-aa54-ddbacaa3b88d	g.chrX:138728991delC	ENST00000520602.1	-	3	382	c.97delG	c.(97-99)aafs	p.E33fs	MCF2_ENST00000414978.1_Frame_Shift_Del_p.E33fs|MCF2_ENST00000519895.1_Frame_Shift_Del_p.E33fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.E118fs			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO.				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.E33K(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)					GCTATTACTTCCTCTGGTATA	0.328													5	8	---	---	---	---