Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DTNB	1838	broad.mit.edu	37	2	25851216	25851216	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:25851216G>A	uc002rgh.3	-	3	436	c.186C>T	c.(184-186)ttC>ttT	p.F62F	DTNB_uc010yko.2_Silent_p.F5F|DTNB_uc002rgi.3_Silent_p.F62F|DTNB_uc002rgj.3_Silent_p.F62F|DTNB_uc002rgk.3_Silent_p.F62F|DTNB_uc002rgl.3_Silent_p.F62F|DTNB_uc002rgq.3_Silent_p.F62F|DTNB_uc002rgn.3_5'UTR|DTNB_uc010ykp.2_5'UTR|DTNB_uc002rgr.1_Silent_p.F51F|DTNB_uc010ykq.1_5'UTR	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	62						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGTCTCGGAAGGCTTCAA	0.423000														7			10		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309404	37309404	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:37309404C>T	uc021utk.1	-	4	2271	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Silent_p.E614E|ZNF790_uc021utl.1_Silent_p.E614E|ZNF790_uc021utm.1_Silent_p.E614E	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E614K(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATAGGATTTCTCAAAAGTGT	0.323000														25			28		0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100463150	100463150	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:100463150C>T	uc003huw.3	+	8	1326	c.964C>T	c.(964-966)Cct>Tct	p.P322S	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	322										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ACCAAATTCTCCTCCCAGGCC	0.408000														16			10		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41055967	41055967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:41055967C>T	uc002icb.1	+	1	329	c.250C>T	c.(250-252)Cca>Tca	p.P84S	G6PC_uc010whf.1_Missense_Mutation_p.P86S	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	84					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGACAGCGTCCATACTGGTG	0.473000														34			36		0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19651187	19651188	+	Silent	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:19651187_19651188CC>TT	uc001bby.3	+	3	577_578	c.225_226CC>TT	c.(223-228)ctcctg>ctTTtg	p.75_76LL>LL	PQLC2_uc001bca.3_Silent_p.75_76LL>LL|PQLC2_uc001bbz.3_Silent_p.10_11LL>LL|PQLC2_uc001bcb.3_5'UTR|PQLC2_uc021ohq.1_Non-coding_Transcript	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA.	75	PQ-loop 1.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGTTCCTCCTGGGCTGGAT	0.624000														29			26		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35261781	35261781	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:35261781C>T	uc001ziv.3	-	0	215	c.34G>A	c.(34-36)Gcc>Acc	p.A12T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	12						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACCGTAGGGGCCACGATCTTC	0.632000											OREG0023038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			21		0	0	1	0	0
MIR520H	574493	broad.mit.edu	37	19	54245767	54245767	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:54245767C>T	uc010yeb.2	+	1		c.1_splice	c.e1-1							Homo sapiens microRNA 520h (MIR520H), microRNA.																		GCAAGAAGATCCCATGCTGTG	0.403000														51			42		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349287	30349287	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:30349287C>T	uc002hgu.3	+	0	1133	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	LRRC37B_uc010wbx.2_Silent_p.P292P|LRRC37B_uc010csu.3_Silent_p.P374P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	374						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTCAGCCTCCCGAGGAGGCGG	0.537000														59			27		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141173	33141173	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:33141173G>A	uc003ocx.1	-	36	2916	c.2688C>T	c.(2686-2688)ccC>ccT	p.P896P	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.P810P|COL11A2_uc003ocz.1_Silent_p.P789P	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	896	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTTCCCAGGGGGGCCCTGGA	0.592000														17			16		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36594965	36594965	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:36594965C>T	uc021qgb.1	+	0	111	c.111C>T	c.(109-111)tcC>tcT	p.S37S	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.S37S	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	37	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	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)				GGGTGAGATCCTTTGAAAAGA	0.463000									Familial Hemophagocytic Lymphohistiocytosis					37			22		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307716	38307716	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:38307716C>T	uc003chz.3	+	0	419	c.365C>T	c.(364-366)tCc>tTc	p.S122F	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.S122F	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	122						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGCTCCCATCCCTGAAGAAT	0.577000														21			12		0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716767	49716767	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:49716767G>A	uc001zxn.3	+	1	802	c.273G>A	c.(271-273)atG>atA	p.M91I	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	91					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	CCCAAGAGATGAAGAATAATT	0.378000														20			9		0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85711762	85711762	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:85711762G>A	uc001pbm.3	-	10	1395	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S	PICALM_uc001pbl.3_Missense_Mutation_p.P360S|PICALM_uc001pbn.3_Missense_Mutation_p.P360S|PICALM_uc010rtl.2_Missense_Mutation_p.P309S|PICALM_uc010rtk.2_5'UTR|PICALM_uc001pbo.1_5'UTR	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	360					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTGGATACAGGAGAGGCTGCA	0.438000			T	"""MLLT10, MLL"""	"""TALL, AML, """									29			24		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363572	10363573	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:10363572_10363573GG>AA	uc002gmn.3	-	12	1324_1325	c.1213_1214CC>TT	c.(1213-1215)ccc>TTc	p.P405F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	405	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGACTCTGGGATAGCAGAGA	0.450000														28			16		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875273	108875273	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:108875273G>A	uc010ywo.2	+	4	610	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	204						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CTTCTACGAGGATATTAAAAA	0.453000														13			14		0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770383	152770383	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152770383C>T	uc021ozh.1	+	0	113	c.113C>T	c.(112-114)tCc>tTc	p.S38F	LCE1D_uc009wnp.3_Missense_Mutation_p.S38F	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	38	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCTCTTCCTGCTGCAGT	0.667000														7			45		0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112240096	112240096	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:112240096G>A	uc001ebi.3	+	3	264	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	RAP1A_uc001ebk.3_Missense_Mutation_p.E54K|RAP1A_uc001ebl.3_Missense_Mutation_p.E54K	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	54					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	p.E54K(2)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GTGTATGCTCGAAATCCTGGA	0.373000														35			24		0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85640715	85640715	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:85640715C>T	uc004amo.1	-	1	814	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	185					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GCCAAATTTTCCATTTCTGTG	0.428000														13			41		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013610	75013610	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:75013610G>A	uc002ayp.4	-	4	1218	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	CYP1A1_uc010bjy.3_Missense_Mutation_p.P366S|CYP1A1_uc010bju.3_Missense_Mutation_p.P102S|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.P102S|CYP1A1_uc002ayq.4_Missense_Mutation_p.P366S|CYP1A1_uc010bjz.1_Missense_Mutation_p.P102S	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	366					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.P366P(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TCCATATAGGGCAGATGGGAT	0.597000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					61			18		0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23394111	23394111	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:23394111C>G	uc001whm.1	-	7	1007	c.916G>C	c.(916-918)Gac>Cac	p.D306H	PRMT5_uc001whl.1_Missense_Mutation_p.D289H|PRMT5_uc010tnf.1_Missense_Mutation_p.D200H|PRMT5_uc010tnh.1_Missense_Mutation_p.D262H|PRMT5_uc010tng.1_Missense_Mutation_p.D245H|PRMT5_uc001whn.1_Missense_Mutation_p.D135H	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	306					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TGCAGATAGTCTTCATAGCCC	0.478000														81			7		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142141539	142141539	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:142141539C>A	uc003eus.3	-	7	919	c.852G>T	c.(850-852)ttG>ttT	p.L284F	XRN1_uc003eut.3_Missense_Mutation_p.L284F|XRN1_uc003euu.3_Missense_Mutation_p.L284F|XRN1_uc003euv.1_Missense_Mutation_p.L145F|XRN1_uc003euw.3_Missense_Mutation_p.L284F|XRN1_uc011bnh.2_Missense_Mutation_p.L74F	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	284					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAACCCCATCAAAATCCAAT	0.318000														22			19		8.34094e-07	8.42757e-07	1	1	0
SOX17	64321	broad.mit.edu	37	8	55372442	55372442	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:55372442C>T	uc003xsb.4	+	1	1336	c.1132C>T	c.(1132-1134)Ccc>Tcc	p.P378S		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	378	Sox C-terminal.				Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.P378R(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GATGGGCCTCCCCTACCAGGG	0.627000														29			9		0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793028	28793028	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:28793028C>T	uc001bpy.3	+	4	837	c.602C>T	c.(601-603)tCc>tTc	p.S201F	PHACTR4_uc001bpu.3_Missense_Mutation_p.S191F|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.S191F|PHACTR4_uc001bpx.3_Missense_Mutation_p.S175F	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	191							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GATGCCACTTCCTCTGGCGGC	0.522000														35			20		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134161528	134161528	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:134161528G>A	uc010quw.1	+	5	789	c.594G>A	c.(592-594)ccG>ccA	p.P198P	LRRC27_uc001llf.2_Silent_p.P198P|LRRC27_uc010quv.1_Silent_p.P198P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P198P|LRRC27_uc001llj.2_Silent_p.P136P|LRRC27_uc001llk.4_Silent_p.P71P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	198										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)		GTGACCTCCCGAGCCCAGGAC	0.557000														51			41		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:17071902C>T	uc002zlp.1	-	0	1799	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	513					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.Q513H(4)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGTCACGAGCTGTAGCACCA	0.498000														52			31		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20994162	20994162	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:20994162G>A	uc010vbe.2	-	48	7740	c.7740C>T	c.(7738-7740)ttC>ttT	p.F2580F	DNAH3_uc010vbd.2_Silent_p.F15F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2580	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGCGAAGGGAACATCCGCA	0.493000														35			19		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227485	56227485	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:56227485C>T	uc002xyq.3	-	3	881	c.488G>A	c.(487-489)gGc>gAc	p.G163D	PMEPA1_uc002xyr.3_Missense_Mutation_p.G113D|PMEPA1_uc002xys.3_Missense_Mutation_p.G128D|PMEPA1_uc002xyt.3_Missense_Mutation_p.G113D	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	163					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGTGCAGGGGCCCTGGTAGGG	0.652000														12			19		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808435	93808435	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:93808435C>T	uc001pep.2	+	8	1757	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	534	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTGATCCTCCCTGTCTGAC	0.502000														13			7		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906312	5906312	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:5906312C>T	uc010qzs.2	+	0	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACACATCGTTTTGGCCA	0.428000														50			31		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6776965	6776966	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:6776965_6776966GG>AA	uc010sfh.2	-	10	1918_1919	c.1648_1649CC>TT	c.(1648-1650)ccg>TTg	p.P550L	ZNF384_uc001qqa.3_Missense_Mutation_p.P489L|ZNF384_uc001qqd.3_Missense_Mutation_p.P434L	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CGTCTTATACGGGGTCAGGTCA	0.619000			T	"""EWSR1, TAF15 """	ALL									73			51		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767106	57767106	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:57767106G>A	uc002yan.3	+	0	1032	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	344						intracellular	nucleic acid binding|zinc ion binding	p.D343H(1)		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)					GCACCGACTCGGGGTACCTGT	0.736000														14			8		0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113539379	113539379	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:113539379C>T	uc002tig.3	-	3	1081	c.121G>A	c.(121-123)Ggc>Agc	p.G41S		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	41					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TGGAGTGGGCCATAGCTTACA	0.443000														27			11		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	124009158	124009158	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:124009158G>A	uc001lfv.3	+	21	9120	c.8760G>A	c.(8758-8760)ctG>ctA	p.L2920L	TACC2_uc001lfw.3_Silent_p.L1066L|TACC2_uc009xzx.3_Silent_p.L2798L|TACC2_uc010qtv.2_Silent_p.L2847L|TACC2_uc001lfx.3_Silent_p.L547L|TACC2_uc001lfy.3_Silent_p.L543L|TACC2_uc001lfz.3_Silent_p.L998L|TACC2_uc001lga.3_Silent_p.L968L|TACC2_uc009xzy.3_Silent_p.L980L|TACC2_uc001lgb.3_Silent_p.L878L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2920						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)				TGGACGCCCTGGAAAGGACGC	0.657000														11			9		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109186434	109186434	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:109186434G>A	uc001tnm.3	-	13	1608	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	SSH1_uc001tnl.3_Silent_p.L195L|SSH1_uc010sxg.2_Silent_p.L518L|SSH1_uc001tnn.4_Silent_p.L507L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	507					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACAGCAGGGGAGGGGGGGCC	0.647000														22			26		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404502	20404502	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:20404502G>A	uc001vwj.2	+	0	736	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225V(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATCGGTGTCCGATGCAGGTCC	0.413000														76			14		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107663440	107663440	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:107663440C>T	uc001pjq.3	-	7	1447	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	SLC35F2_uc010rvu.2_Silent_p.P194P	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	342					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TGCTTTCAGCCGGCTCGGCCG	0.557000														14			4		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30963079	30963079	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:30963079G>A	uc003tbv.2	+	3	755	c.645G>A	c.(643-645)ggG>ggA	p.G215G	FAM188B_uc011kac.1_Silent_p.G275G|FAM188B_uc010kwf.1_Silent_p.G132G|FAM188B_uc010kwh.1_Silent_p.G164G|FAM188B_uc022abh.1_Silent_p.G100G	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0								p.G132G(1)|p.G215G(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGGGTGGGGCCATTCATCG	0.612000														12			15		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170584	207170584	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:207170584A>T	uc002vbp.2	+	4	1582	c.1332A>T	c.(1330-1332)aaA>aaT	p.K444N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	444							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAATAATAAATCTTATGTTT	0.333000														14			5		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012741	73012741	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:73012741C>T	uc001sxa.3	+	12	2287	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	753					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATTTTCTTCCTTGGCATGC	0.363000														40			17		0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26621094	26621094	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:26621094G>A	uc001uqm.1	-	1	530	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	149					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CTCTGCTGGGGATCCTGCTTA	0.627000														10			55		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183191251	183191251	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:183191251G>A	uc001gqa.2	+	5	982	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	LAMC2_uc001gpz.4_Missense_Mutation_p.R223Q|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	223	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCTGTCCAACGAAATGGGTCT	0.453000														31			19		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186002461	186002461	+	Silent	SNP	G	A	A	rs150564600	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:186002461G>A	uc003fqa.3	-	6	1119	c.582C>T	c.(580-582)ctC>ctT	p.L194L	DGKG_uc003fqb.3_Silent_p.L194L|DGKG_uc003fqc.3_Silent_p.L194L|DGKG_uc011brx.2_Silent_p.L194L	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	194	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTTGGTCCAGGAGACCGTTCT	0.483000														21			17		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168838922	168838922	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:168838922C>T	uc011bpj.1	-	6	1457	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	MECOM_uc010hwk.1_Missense_Mutation_p.E187K|MECOM_uc003ffj.3_Missense_Mutation_p.E229K|MECOM_uc003ffi.3_Missense_Mutation_p.E164K|MECOM_uc011bpi.1_Missense_Mutation_p.E165K|MECOM_uc003ffn.3_Missense_Mutation_p.E164K|MECOM_uc003ffk.2_Missense_Mutation_p.E164K|MECOM_uc003ffl.2_Missense_Mutation_p.E324K|MECOM_uc011bpk.1_Missense_Mutation_p.E164K|MECOM_uc010hwn.2_Missense_Mutation_p.E352K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCCACACTCCGGGCATGCA	0.527000														13			7		0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123869614	123869614	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:123869614C>T	uc003pzj.2	-	2	694	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRDN_uc003pzk.2_Missense_Mutation_p.E126K|TRDN_uc010ken.3_Missense_Mutation_p.E126K|TRDN_uc021zem.1_Missense_Mutation_p.E126K|TRDN_uc010keo.2_Missense_Mutation_p.E126K	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	126					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCAGTATCTTCGTCACCATCA	0.363000														3			3		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41201724	41201724	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:41201724G>A	uc003jmk.2	-	2	446	c.236C>T	c.(235-237)cCc>cTc	p.P79L	C6_uc003jml.1_Missense_Mutation_p.P79L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	79	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAGTTGATGGGGCATCTTTG	0.433000														21			18		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223866	55223866	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:55223866G>A	uc003pcm.1	+	5	968	c.882G>A	c.(880-882)agG>agA	p.R294R		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	294						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)			GTACCTGTAGGACCATTACAC	0.398000														35			24		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771884	157771884	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:157771884G>A	uc001frg.3	-	4	820	c.707C>T	c.(706-708)cCt>cTt	p.P236L	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.P236L|FCRL1_uc001fri.3_Missense_Mutation_p.P236L|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	236	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.S235S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGATCGGAGGAGAGCCTCT	0.607000														24			15		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38278380	38278380	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:38278380A>G	uc003chy.3	+	10	1344	c.1002A>G	c.(1000-1002)ggA>ggG	p.G334G	OXSR1_uc010hhb.3_Silent_p.G268G	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	334					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGAGGATGGAGGCTGGGAGT	0.423000														36			30		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853785	122853785	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:122853785G>A	uc003ieg.2	-	1	702	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	TRPC3_uc010inr.2_Missense_Mutation_p.P137S|TRPC3_uc003ief.2_Missense_Mutation_p.P137S|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	125					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTCACAGGGGCTCAGAGTG	0.652000														18			17		0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122825641	122825641	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:122825641G>A	uc003egc.2	+	5	589	c.433G>A	c.(433-435)Gag>Aag	p.E145K	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	145	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CCCACTGTGGGAGGAAGATCC	0.478000														34			18		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50857580	50857580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:50857580G>A	uc001jhz.2	+	9	1562	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	CHAT_uc001jhv.1_Missense_Mutation_p.R352Q|CHAT_uc001jhx.1_Missense_Mutation_p.R352Q|CHAT_uc001jhy.1_Missense_Mutation_p.R352Q|CHAT_uc001jia.2_Missense_Mutation_p.R388Q|CHAT_uc010qgs.1_Missense_Mutation_p.R352Q	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	470					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AAGCTGATCCGAGCAGACTCC	0.617000														28			29		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42041010	42041010	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:42041010C>T	uc003gwl.3	+	7	823	c.677C>T	c.(676-678)tCc>tTc	p.S226F	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	226					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCCACGCTCCAGAACAGCA	0.358000														30			17		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73020076	73020076	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:73020076C>T	uc003tyn.1	-	6	891	c.843G>A	c.(841-843)atG>atA	p.M281I	MLXIPL_uc003tyk.1_Missense_Mutation_p.M281I|MLXIPL_uc003tym.1_Missense_Mutation_p.M281I|MLXIPL_uc003tyl.1_Missense_Mutation_p.M281I|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.M188I|MLXIPL_uc003tyq.1_Missense_Mutation_p.M23I	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	281					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.D280H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCGGCTGGATCATGTCAGCAT	0.667000														12			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61308107	61308107	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:61308107C>T	uc002ljf.3	-	5	555	c.469_splice	c.e5+1	p.E157_splice	SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	157					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGCTCTCCTACCATTCGTTTG	0.453000														18			7		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627144	29627144	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:29627144G>A	uc003nnf.3	+	1	366	c.137G>A	c.(136-138)gGg>gAg	p.G46E	MOG_uc003qzk.2_Missense_Mutation_p.G46E|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.G46E|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.G46E|MOG_uc003nng.3_Missense_Mutation_p.G46E|MOG_uc003nni.3_Missense_Mutation_p.G46E|MOG_uc003nnh.3_Missense_Mutation_p.G46E|MOG_uc003nnj.3_Missense_Mutation_p.G46E|MOG_uc003nnk.3_Missense_Mutation_p.G46E	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	46	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.V45I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GCTCTGGTCGGGGATGAAGTG	0.547000														94			45		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052233	40052233	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:40052233G>A	uc002xka.1	-	29	4632	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1485					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.S1485S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCAAACGGGAAATGATGCG	0.443000														90			69		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063723	73063723	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:73063723G>A	uc004ebm.1	-	0		c.8866C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AAAGGTGATGGGGTATGACCT	0.408000														4			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784402	82784402	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:82784402G>A	uc003uhx.2	-	1	1844	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PCLO_uc003uhv.2_Missense_Mutation_p.P519S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	465	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAGGTGAGGGCTTTGCTGGG	0.597000														115			110		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62257194	62257194	+	Missense_Mutation	SNP	G	A	A	rs150212631		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:62257194G>A	uc003dlb.3	+	20	3865	c.3146G>A	c.(3145-3147)cGg>cAg	p.R1049Q	PTPRG_uc003dlc.3_Missense_Mutation_p.R1020Q|PTPRG_uc011bfi.2_Missense_Mutation_p.R295Q|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1049	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAGCAGCTCGGATGCCAGAA	0.537000														25			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033256	41033256	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:41033256C>T	uc003jmj.4	-	22	2738	c.2248G>A	c.(2248-2250)Gat>Aat	p.D750N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D305N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	750							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTGCAGATCCATGTCCTAA	0.428000														10			3		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87717796	87717796	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:87717796G>A	uc002fkd.3	+	2	1463	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	403	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CAGCAGCTCAGAAAGCCCAGG	0.657000														6			9		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396779	71396779	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:71396779C>T	uc003hfk.1	+	7	470	c.381C>T	c.(379-381)atC>atT	p.I127I	AMTN_uc010ihy.1_Silent_p.I126I	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	127					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CGAGCCTCATCATCCATTCCT	0.488000														13			9		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176915132	176915132	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:176915132C>T	uc001glc.3	-	12	2391	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	ASTN1_uc001glb.1_Missense_Mutation_p.E727K|ASTN1_uc001gld.1_Missense_Mutation_p.E727K|ASTN1_uc009wwx.1_Missense_Mutation_p.E727K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	735					cell migration|neuron cell-cell adhesion	integral to membrane		p.G726G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AAGAACATCTCCCCAAAGAGG	0.498000														42			24		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56103979	56103979	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:56103979G>A	uc002qli.4	-	2	1418	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	FIZ1_uc002qlj.4_Missense_Mutation_p.P443L	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTCCAGGCACGGGAACGGCTT	0.662000														16			17		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054364	102054364	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:102054364G>A	uc001kqx.1	-	8	1970	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	PKD2L1_uc009xwm.1_Silent_p.I482I	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	529					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGCATTGTCGATAGCATTGT	0.542000														43			25		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137212	40137212	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:40137212C>T	uc021qgf.1	-	0	631	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E207K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E211K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E207K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	211					regulation of axonogenesis	integral to membrane	protein binding	p.E211*(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTAGGGATTTCCCGAAGGTTG	0.453000														42			17		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500812	149500812	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:149500812G>A	uc010lpk.3	+	54	8121	c.8121G>A	c.(8119-8121)ggG>ggA	p.G2707G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2710					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCAACCAGGGGGCTGCCCCC	0.692000														10			7		0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361671	105361671	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:105361671C>T	uc003ylx.1	+	1	940	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	297					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGCTGTTTTTCCTCCCCATAC	0.478000														142			54		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93154522	93154522	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:93154522G>A	uc001yap.3	+	9	3035	c.2883G>A	c.(2881-2883)cgG>cgA	p.R961R	RIN3_uc010auk.3_Silent_p.R623R|RIN3_uc001yaq.3_Silent_p.R886R	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	961	Ras-associating.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TTGTCTACCGGCCCCTGGACG	0.731000														6			5		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666685	19666685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:19666685C>T	uc002ykw.3	-	20	2419	c.2388G>A	c.(2386-2388)tgG>tgA	p.W796*		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	796	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAACCCAGGGCCAGGCCCCTT	0.527000														41			42		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200965501	200965501	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:200965501C>T	uc001gvs.2	-	14	2417	c.2100G>A	c.(2098-2100)gaG>gaA	p.E700E	KIF21B_uc009wzl.2_Silent_p.E700E|KIF21B_uc001gvr.2_Silent_p.E700E|KIF21B_uc010ppn.2_Silent_p.E700E	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	700					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGCCTTCTCCTCAGTATAGC	0.592000														58			46		0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812150	73812150	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:73812150G>A	uc004ebu.3	-	4	1290	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	RLIM_uc004ebw.3_Missense_Mutation_p.R334W	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	334					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R334W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCTCTGCCGATATTCTCCA	0.473000														5			14		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60560736	60560736	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:60560736C>T	uc001jki.1	+	13	1945	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	BICC1_uc001jkj.1_Missense_Mutation_p.P290S	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	649					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GATGATGTGTCCCTCCAAGGT	0.438000														26			19		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17594408	17594408	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:17594408C>T	uc001bai.3	+	5	643	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	201					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AACTTGTCCTCCATACCTCCA	0.572000														34			18		0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105483088	105483088	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:105483088G>A	uc001pix.2	+	2	620	c.174G>A	c.(172-174)tcG>tcA	p.S58S	GRIA4_uc001piu.1_Silent_p.S58S|GRIA4_uc001piw.2_Silent_p.S58S|GRIA4_uc001piv.3_Silent_p.S58S|GRIA4_uc009yxk.1_Silent_p.S58S|GRIA4_uc001pit.3_Silent_p.S58S	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	58					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCAATGCGTCGGAAGCTCCTT	0.393000														44			15		0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31221449	31221449	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:31221449G>A	uc001zff.3	+	11	2927	c.2636G>A	c.(2635-2637)aGa>aAa	p.R879K	FAN1_uc001zfe.3_Missense_Mutation_p.R484K	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	879					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						TTCACAAGCAGACGCCCAGCC	0.607000								Direct reversal of damage						100			4		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:1168853G>A	uc002qwq.3	+	7	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.N191K(2)|p.G192R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000														73			37		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43912675	43912676	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:43912675_43912676AC>TT	uc001cjk.2	+	64	9035_9036	c.6425_6426AC>TT	c.(6424-6426)cac>cTT	p.H2142L	SZT2_uc001cjl.2_Missense_Mutation_p.H130L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3041						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCTGATGCACGTGCACTCGT	0.599000														8			9		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475183	5475183	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:5475183C>T	uc010qzf.2	+	0	546	c.465C>T	c.(463-465)acC>acT	p.T155T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTCATCACCCTTTTCCCTC	0.502000														37			20		0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117007411	117007411	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:117007411G>A	uc003vjb.2	-	11	1333	c.1270C>T	c.(1270-1272)Caa>Taa	p.Q424*	ASZ1_uc011kno.1_Nonsense_Mutation_p.Q415*|ASZ1_uc011knp.1_Nonsense_Mutation_p.Q216*	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	424					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATACCTTTTGAATTAGGTCT	0.343000														7			8		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43986071	43986071	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:43986071G>C	uc003bdy.2	-	23	3229	c.2915C>G	c.(2914-2916)gCa>gGa	p.A972G	EFCAB6_uc003bdz.2_Missense_Mutation_p.A820G|EFCAB6_uc010gzi.2_Missense_Mutation_p.A820G|EFCAB6_uc010gzj.1_Missense_Mutation_p.A198G	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	972	EF-hand 11.				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)				TTTGGTGAATGCTTTGCTGAT	0.413000														28			19		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340805	121340805	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:121340805G>A	uc003eeg.2	+	2	739	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	177					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GGGTGGAGTGGATATCGGTTT	0.498000														13			9		0	0	1	0	0
STBD1	8987	broad.mit.edu	37	4	77230887	77230887	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:77230887C>T	uc003hka.3	+	1	1555	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	FAM47E_uc003hjy.3_3'UTR|FAM47E_uc011cbv.2_3'UTR|STBD1_uc011cbw.2_Missense_Mutation_p.H122Y	NM_003943	NP_003934	O95210	STBD1_HUMAN	Homo sapiens starch binding domain 1 (STBD1), mRNA.	271	CBM20.				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	13			Lung(101;0.196)			GTTCCAGGTCCATTATGTCAC	0.478000														10			7		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436155	248436155	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:248436155C>T	uc010pzi.2	-	1	963	c.963_splice	c.e1+1	p.*321_splice		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACATTAGATCATCTTGACCT	0.388000														64			34		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681465	52681465	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:52681465G>A	uc001sab.3	-	5	991	c.941C>T	c.(940-942)aCc>aTc	p.T314I	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	314	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGCGCAGGGTCTCCCCGTG	0.587000														15			18		0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12951768	12951768	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:12951768C>T	uc021qdx.1	+	11	1682	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N	TEAD1_uc001mkk.4_Silent_p.N258N|TEAD1_uc009ygl.3_Silent_p.N175N	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	354	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACCGAATAAACCGCTCCCCAA	0.363000														45			17		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207642046	207642047	+	Missense_Mutation	DNP	CC	TT	TT	rs140138320		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:207642046_207642047CC>TT	uc001hfw.3	+	2	739_740	c.620_621CC>TT	c.(619-621)ccc>cTT	p.P207L	CR2_uc001hfv.3_Missense_Mutation_p.P207L|CR2_uc009xch.3_Missense_Mutation_p.P207L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	207	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTGCTGTCCCCCCCACATGTG	0.406000														57			44		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26094815	26094815	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:26094815G>A	uc002gzu.3	-	17	2347	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	NOS2_uc010wab.1_Missense_Mutation_p.P660S	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	695					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.P695T(4)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TAGAGCTTGGGGATCTGAATG	0.567000														25			8		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95058453	95058453	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:95058453G>A	uc001ydm.2	+	5	1308	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	SERPINA3_uc001ydo.4_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	366					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.T366K(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CGGCAGCCACGGGGACAATAT	0.567000														137			81		0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30659483	30659483	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:30659483C>T	uc002wxh.3	+	1	318	c.81C>T	c.(79-81)tcC>tcT	p.S27S	HCK_uc010gdy.3_Silent_p.S7S|HCK_uc021wbv.1_Silent_p.S6S|HCK_uc002wxi.3_Silent_p.S6S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	27					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCATGAAGTCCAAGTTCCTCC	0.562000														28			22		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35087097	35087097	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:35087097C>T	uc003okd.2	-	8	1407	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	TCP11_uc003ojz.1_Missense_Mutation_p.G334D|TCP11_uc003oka.2_Missense_Mutation_p.G334D|TCP11_uc003okb.2_Missense_Mutation_p.G333D|TCP11_uc011dsu.1_Missense_Mutation_p.G391D|TCP11_uc003okc.2_Missense_Mutation_p.G333D|TCP11_uc011dsv.1_Missense_Mutation_p.G358D|TCP11_uc011dsw.1_Missense_Mutation_p.G363D	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	396					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGCAACAAGGCCCATATTCTT	0.448000														46			34		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81239603	81239603	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:81239603G>A	uc001szj.1	-	3	582	c.389C>T	c.(388-390)tCc>tTc	p.S130F	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	130	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATAAATGGGGGAATTTTGCTC	0.493000														24			11		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33016019	33016019	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:33016019C>A	uc011kal.2	+	4	951	c.770C>A	c.(769-771)cCt>cAt	p.P257H	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.P204H|FKBP9_uc010kwm.3_Missense_Mutation_p.P111H	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	204					protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGGCTGATTCCTGGAATGGAT	0.468000														51			28		2.61193e-14	2.66676e-14	1	1	0
PDE7B	27115	broad.mit.edu	37	6	136500161	136500161	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:136500161C>T	uc003qgp.3	+	9	1133	c.830C>T	c.(829-831)tCc>tTc	p.S277F	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.S329F	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	277	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CAGCTGGGCTCCTTGATCTTG	0.418000														69			36		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190772	153190772	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:153190772C>T	uc011dcy.2	+	15	2765	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V	GRIA1_uc003lva.4_Missense_Mutation_p.A903V|GRIA1_uc003luy.4_Missense_Mutation_p.A903V|GRIA1_uc003luz.4_Missense_Mutation_p.A808V|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.A823V|GRIA1_uc011dcx.2_Missense_Mutation_p.A834V|GRIA1_uc011dcz.2_Missense_Mutation_p.A913V	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	903					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCTTGGGAGCCACGGGATTG	0.572000														13			11		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58768348	58768348	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:58768348G>A	uc001xdp.3	+	2	311	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Silent_p.K19K|ARID4A_uc001xdq.3_Silent_p.K19K	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	19					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGTGCCAAGTACCGAGGTG	0.428000														8			10		0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142083993	142083993	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:142083993G>A	uc003eus.3	-	28	3357	c.3290C>T	c.(3289-3291)cCt>cTt	p.P1097L	XRN1_uc010huu.3_Missense_Mutation_p.P563L|XRN1_uc003eut.3_Missense_Mutation_p.P1097L|XRN1_uc003euu.3_Missense_Mutation_p.P1097L	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1097					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCCCGATCAGGAATGACTCC	0.348000														26			12		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63600983	63600983	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:63600983G>A	uc003dlp.3	+	5	980	c.684G>A	c.(682-684)caG>caA	p.Q228Q	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.Q208Q|SYNPR_uc010hnt.3_Silent_p.Q217Q|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	208	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		CTTCGGGACAGAGATATCTTT	0.453000														5			5		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49360692	49360692	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:49360692G>A	uc002pkx.3	-	8	1585	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	345	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TAAAACCATGGAGGCCCGGGT	0.562000														5			7		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16262467	16262467	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:16262467C>T	uc001axk.1	+	10	9936	c.9732C>T	c.(9730-9732)acC>acT	p.T3244T	SPEN_uc010obp.1_Silent_p.T3203T	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3244	Pro-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTgcccccacccccacccctg	0.672000														6			11		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554593	44554593	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:44554593C>T	uc010xdb.2	-	0	1857	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.G541R(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGAATCTTCCCTTGTAGTCT	0.577000														272			20		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1260910	1260910	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:1260910G>A	uc002cks.3	+	20	4410	c.4162G>A	c.(4162-4164)Ggc>Agc	p.G1388S	CACNA1H_uc002ckt.3_Missense_Mutation_p.G1388S|CACNA1H_uc002cku.3_Missense_Mutation_p.G94S|CACNA1H_uc010brj.3_Missense_Mutation_p.G94S|CACNA1H_uc002ckv.3_Missense_Mutation_p.G94S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1388					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCGGCTGGTGGCGCCAAGAT	0.692000														45			32		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73726011	73726012	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:73726011_73726012CC>TG	uc010ttx.2	+	14	1906_1907	c.1743_1744CC>TG	c.(1741-1746)cacccc>caTGcc	p.P582A	PAPLN_uc001xnw.4_Missense_Mutation_p.P555A|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P582A|PAPLN_uc010arm.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	582						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCAGGAACACCCCTCAGCCAG	0.658000														47			18		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849047	131849047	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:131849047C>T	uc003vra.4	-	24	4583	c.4354_splice	c.e24-1	p.E1452_splice		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1452						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGCACACTCCTGGAGGTGA	0.592000														12			11		0	0	1	0	0
PQBP1	10084	broad.mit.edu	37	X	48759695	48759695	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:48759695G>A	uc004dlh.3	+	4	587	c.478G>A	c.(478-480)Gat>Aat	p.D160N	PQBP1_uc022bvv.1_Missense_Mutation_p.D152N|PQBP1_uc004dle.3_Missense_Mutation_p.D160N|PQBP1_uc004dlf.3_Missense_Mutation_p.D160N|PQBP1_uc004dlg.3_Missense_Mutation_p.D160N|PQBP1_uc004dln.3_Missense_Mutation_p.D160N|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.D160N|PQBP1_uc004dlj.1_Missense_Mutation_p.D160N|PQBP1_uc004dlm.3_Missense_Mutation_p.D118N|PQBP1_uc010nii.3_Missense_Mutation_p.D118N|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Intron	NM_001032384	NP_005701	O60828	PQBP1_HUMAN	Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.	160	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAGGGAACGGGATCGGGACCG	0.622000														8			7		0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42744050	42744051	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:42744050_42744051GG>AA	uc001che.3	-	4	649_650	c.337_338CC>TT	c.(337-339)cca>TTa	p.P113L	FOXJ3_uc001chf.3_Missense_Mutation_p.P113L|FOXJ3_uc001chh.2_Missense_Mutation_p.P113L|FOXJ3_uc001chg.3_Missense_Mutation_p.P113L	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	113					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTATAATATGGGAAGTTATCA	0.317000														26			22		0	0	1	0	0
OGN	4969	broad.mit.edu	37	9	95163468	95163468	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:95163468C>T	uc011ltx.2	-	3	329	c.229_splice	c.e3-1	p.E77_splice	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Splice_Site_p.E59_splice|OGN_uc004asb.3_Splice_Site_p.E59_splice	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	59						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTTCTTTTTCCTATTGGAAAA	0.343000														4			15		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11300948	11300948	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:11300948C>T	uc010hdr.3	+	1	567	c.225C>T	c.(223-225)atC>atT	p.I75I	HRH1_uc010hds.3_Silent_p.I75I|HRH1_uc010hdt.3_Silent_p.I75I|HRH1_uc003bwb.4_Silent_p.I75I|HRH1_uc021wtb.1_Silent_p.I75I	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	75					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGGACTTGATCGTGGGTGCCG	0.572000														37			37		0	0	1	0	0
HYAL3	8372	broad.mit.edu	37	3	50332308	50332308	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:50332308G>A	uc021wyn.1	-	1	812	c.726C>T	c.(724-726)ttC>ttT	p.F242F	HYAL3_uc003cze.2_Intron|HYAL3_uc003czf.2_Intron|HYAL3_uc003czd.2_Silent_p.F242F|HYAL3_uc003czg.2_Silent_p.F242F	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	242					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGATGCTGGGGAAGAGGGCAC	0.642000														24			17		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192268	203192268	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:203192268G>A	uc001gzn.2	-	5	696	c.600C>T	c.(598-600)atC>atT	p.I200I	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Silent_p.I191I	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	200					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTCACTGGGCGATTTTGTCCA	0.572000														67			52		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143559695	143559695	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:143559695G>A	uc003ywm.3	+	5	1718	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	512	TSP type-1 4.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGAGACCCGAGACTGCTTC	0.692000														13			7		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011635	176011635	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:176011635C>T	uc021yie.1	+	18	2627	c.2353C>T	c.(2353-2355)Ccc>Tcc	p.P785S	CDHR2_uc003mem.2_Missense_Mutation_p.P785S|CDHR2_uc003men.1_Missense_Mutation_p.P785S	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	785	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GAACCCAGACCCCCAGGGGGG	0.607000														51			14		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640289	104640289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:104640289C>T	uc003hxe.1	-	0	685	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	182						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCTCACCTGTCCACCGCAATG	0.512000														8			10		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282472	152282472	+	Silent	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152282472G>T	uc001ezu.1	-	2	4926	c.4890C>A	c.(4888-4890)tcC>tcA	p.S1630S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1630	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)			TGGGGTTCCTGGAGCCATGTC	0.552000									Ichthyosis					177			4		0.000602214	0.000605042	1	1	0
OR3A3	8392	broad.mit.edu	37	17	3324457	3324457	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:3324457C>T	uc010vrd.2	+	0	596	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_012373	NP_036505	P47888	OR3A3_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CTCTCCTGCTCCAGCACCCAA	0.552000														46			22		0	0	1	0	0
TSPAN6	7105	broad.mit.edu	37	X	99890734	99890734	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:99890734C>T	uc004ega.1	-	1	200	c.97G>A	c.(97-99)Gtt>Att	p.V33I	TSPAN6_uc010nna.1_5'UTR	NM_003270	NP_003261	O43657	TSN6_HUMAN	Homo sapiens tetraspanin 6 (TSPAN6), mRNA.	33					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						AGAAGGATAACGCCAGTGATC	0.443000														0			4		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303797	151303797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:151303797G>A	uc022cgz.1	-	0	296	c.296C>T	c.(295-297)tCc>tTc	p.S99F	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.S99F|MAGEA10_uc004ffm.2_Missense_Mutation_p.S99F|MAGEA10_uc004ffl.3_Missense_Mutation_p.S99F	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	99										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAATGGAAGGGAAGCAACGAC	0.537000														25			73		0	0	1	0	0
RWDD1	51389	broad.mit.edu	37	6	116910104	116910104	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:116910104G>A	uc003pxd.3	+	3	533	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RWDD1_uc003pxc.3_Missense_Mutation_p.E28K|RWDD1_uc003pxb.3_Missense_Mutation_p.E28K	NM_015952	NP_057188	Q9H446	RWDD1_HUMAN	Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA.	124				TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733).			protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		Tagaagagaagaagaaaagaa	0.294000														13			5		0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36858788	36858788	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:36858788G>A	uc010xtd.2	-	0	86	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	ZFP14_uc010eex.2_Missense_Mutation_p.H3Y	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAACTTACATGGGCCATGGTT	0.368000														14			11		0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079944	44079944	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:44079944G>A	uc002rtq.3	+	5	991	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	ABCG8_uc010yoa.2_Missense_Mutation_p.V301I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	301	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCAGCACATGGTCCAGTATTT	0.597000														39			23		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47408856	47408856	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:47408856C>T	uc003gxh.3	+	7	1367	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GABRB1_uc011bze.2_Silent_p.F261F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATTACATCTTCTTTGGGAAAG	0.398000														35			17		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110032592	110032593	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:110032592_110032593CC>TT	uc001dxr.3	+	7	1093_1094	c.1078_1079CC>TT	c.(1078-1080)ccc>TTc	p.P360F	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	360										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGATGAAGGCCCCTGTGGTGGT	0.634000														87			47		0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29119578	29119578	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:29119578C>T	uc002hfr.4	-	5	948	c.839G>A	c.(838-840)gGt>gAt	p.G280D	CRLF3_uc010wbr.2_Missense_Mutation_p.G164D	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	280					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCCCTCAAAACCAGCTGTCCA	0.403000														18			26		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35731618	35731618	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:35731618C>T	uc011axy.2	+	6	743	c.531C>T	c.(529-531)ttC>ttT	p.F177F	ARPP21_uc003cga.3_Silent_p.F177F|ARPP21_uc003cgb.3_Silent_p.F177F|ARPP21_uc003cgf.3_Silent_p.F13F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	177	R3H.					cytoplasm	nucleic acid binding	p.D176Y(1)		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						TTATTGATTTCATTGCTGACA	0.318000														18			7		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62986530	62986530	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:62986530C>T	uc002alb.4	+	10	1231	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	411					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						AAGTAAAGATCGATTTGGACT	0.448000														36			6		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200784	132200784	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:132200784C>T	uc002tst.2	-	0	1684	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCACCTTGCACTCCCGGAGGA	0.637000														9			5		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7483232	7483233	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:7483232_7483233CC>TT	uc003src.1	-	19	1750_1751	c.1633_1634GG>AA	c.(1633-1635)gga>AAa	p.G545K	COL28A1_uc011jxe.1_Missense_Mutation_p.G228K|COL28A1_uc003srd.3_Missense_Mutation_p.G100K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	545	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GCCAGGCTGTCCTTTTCCAGGT	0.510000														27			10		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650545	121650545	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:121650545C>T	uc003vjy.3	+	11	1840	c.1445C>T	c.(1444-1446)tCc>tTc	p.S482F	PTPRZ1_uc011knt.2_Missense_Mutation_p.S482F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S482F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	482					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.R481R(1)		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						ACTAACCGATCCCCAACAAGA	0.413000														36			47		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148855984	148855984	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:148855984C>T	uc003qme.1	+	15	2517	c.2042C>T	c.(2041-2043)cCg>cTg	p.P681L	SASH1_uc011eeb.1_Missense_Mutation_p.P442L|SASH1_uc003qmf.1_Missense_Mutation_p.P91L	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	681	SAM 1.						protein binding	p.P681Q(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ATCAGGGACCCGGAACACAGA	0.488000														21			16		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433819	43433819	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:43433819T>G	uc002ovl.4	-	3	583	c.481A>C	c.(481-483)Acg>Ccg	p.T161P	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.T40P	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	162	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				ACAGCCTCCGTGGCCTCCCTG	0.532000														71			119		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238685	3238685	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:3238685G>A	uc004crg.4	-	4	5198	c.5041C>T	c.(5041-5043)Ccc>Tcc	p.P1681S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1681						extracellular region		p.P1681P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAATGCTGGGTTTGGACATG	0.413000														82			45		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872583	51872583	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:51872583G>A	uc002xwo.3	+	1	3473	c.2586G>A	c.(2584-2586)tcG>tcA	p.S862S	TSHZ2_uc021wex.1_Silent_p.S859S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	862					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGTTTGCCTCGAGCCTCTTCC	0.483000														22			7		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034380	150034381	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:150034380_150034381CC>TT	uc003wgz.4	+	0	430_431	c.430_431CC>TT	c.(430-432)ccc>TTc	p.P144F	LRRC61_uc003wgv.3_Missense_Mutation_p.P144F|LRRC61_uc003wgx.3_Missense_Mutation_p.P144F|LRRC61_uc003wgw.3_Missense_Mutation_p.P144F	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	144	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CTGTGCCAACCCCTCCTACTGG	0.653000														33			13		0	0	1	0	0
AK302694	0	broad.mit.edu	37	10	30993462	30993463	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:30993462_30993463GG>AA	uc010qdx.1	+	6	1158_1159	c.616_617GG>AA	c.(616-618)gga>AAa	p.G206K						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CCTGGTGGAAGGACACCACAGG	0.569000														15			7		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48166409	48166409	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:48166409G>T	uc001ngp.4	+	12	3113	c.2758G>T	c.(2758-2760)Ggg>Tgg	p.G920W		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	920				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).	contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.N919S(1)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTATTACAATGGGAAGCTGGA	0.458000														53			20		1.55795e-14	1.59217e-14	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20489930	20489930	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:20489930C>T	uc010bwe.3	+	10	1451	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	ACSM2A_uc010vax.1_Silent_p.P325P|ACSM2A_uc002dhf.4_Silent_p.P404P|ACSM2A_uc002dhg.4_Silent_p.P404P|ACSM2A_uc010vay.2_Silent_p.P325P|ACSM2A_uc002dhh.4_Silent_p.P34P	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	404					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						TCCTGCCCCCCGGCACAGAAG	0.507000														17			11		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138555970	138555970	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:138555970G>A	uc011kql.2	-	12	4533	c.4484C>T	c.(4483-4485)cCg>cTg	p.P1495L	KIAA1549_uc011kqi.2_Missense_Mutation_p.P279L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P279L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1495L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1495						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGTGCCGGGATCGGCTG	0.567000			O	BRAF	pilocytic astrocytoma									20			20		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648221	11648221	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:11648221C>T	uc002gne.3	+	30	6287	c.6219C>T	c.(6217-6219)tcC>tcT	p.S2073S	DNAH9_uc010coo.3_Silent_p.S1367S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2073					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGCGCTCCTTGCGGGATT	0.612000														24			10		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22261174	22261174	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:22261174C>T	uc001mqi.2	+	8	1139	c.822C>T	c.(820-822)caC>caT	p.H274H	ANO5_uc001mqj.2_Silent_p.H273H	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	274						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACTTCACCAGAATTGGG	0.398000														55			31		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99569317	99569317	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:99569317C>T	uc003dtm.3	-	4	1666	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Silent_p.K401K|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Silent_p.K161K|FILIP1L_uc003dtn.3_Silent_p.K161K|FILIP1L_uc021xbr.1_Silent_p.K161K|FILIP1L_uc003dtp.1_Silent_p.K161K	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	401						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTTCAAGCCTCTTATTGAGAT	0.408000														82			57		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259367	32259367	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:32259367G>A	uc001bts.1	-	11	2573	c.2515C>T	c.(2515-2517)Ccc>Tcc	p.P839S	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.P839S|SPOCD1_uc001btv.3_Missense_Mutation_p.P332S|SPOCD1_uc021oks.1_Missense_Mutation_p.P144S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	839					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGTTCCGTGGGAGACAACTCC	0.582000														47			36		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807058	45807058	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:45807058G>A	uc011bai.2	-	7	1398	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	SLC6A20_uc003cow.3_Missense_Mutation_p.S75F|SLC6A20_uc011baj.2_Missense_Mutation_p.S388F	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	425					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAGGTGGCTGGAGATGATCTT	0.632000														11			4		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:186395415C>T	uc003fqq.3	+	6	1344	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	441	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552000														27			17		0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870068	135870069	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:135870068_135870069GG>AA	uc003eqx.1	-	1	2387_2388	c.1654_1655CC>TT	c.(1654-1656)cca>TTa	p.P552L	MSL2_uc011bmb.1_Missense_Mutation_p.P478L|MSL2_uc021xel.1_Missense_Mutation_p.P478L	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	552					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CGTCGTTACTGGGGACCCTGTG	0.450000														49			33		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201924	21201924	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:21201924G>A	uc003zop.1	-	0	281	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	81					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCATCTCATGGAGGACAGAG	0.478000														15			27		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38997973	38997973	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:38997973C>T	uc021yzh.1	+	92	14038	c.13929C>T	c.(13927-13929)ttC>ttT	p.F4643F	DNAH8_uc003ooe.2_Silent_p.F4426F	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTACTCTTCACGCAGTTAC	0.517000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			16		0	0	1	0	0
STAP2	55620	broad.mit.edu	37	19	4325490	4325490	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:4325490C>T	uc002mab.3	-	9	1073	c.882G>A	c.(880-882)caG>caA	p.Q294Q	STAP2_uc002mac.3_Silent_p.Q294Q|STAP2_uc021unb.1_Silent_p.Q294Q|STAP2_uc021unc.1_Silent_p.Q294Q|STAP2_uc002mad.3_Silent_p.Q187Q	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN	Homo sapiens signal transducing adaptor family member 2 (STAP2), transcript variant 2, mRNA.	294	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTTGTCCTGGCTAGACG	0.587000														106			80		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020446	2020446	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:2020446C>T	uc003wpx.4	+	8	953	c.815C>T	c.(814-816)cCg>cTg	p.P272L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	272	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCGATGATTCCGTACACGCAC	0.582000														18			25		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102702	107102702	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:107102702C>T	uc003prm.3	+	7	1063	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	316					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		ATTGAAGTATCCCTTCCTCAC	0.423000														42			31		0	0	1	0	0
BC070322	0	broad.mit.edu	37	9	69634701	69634701	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:69634701C>T	uc004afu.3	-	2		c.370G>A								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		ATGGCATATCCTGTGTTCATG	0.587000														46			10		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144361025	144361025	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:144361025C>T	uc003ijd.3	+	4	1625	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	GAB1_uc003ije.3_Silent_p.G422G|GAB1_uc011chq.2_Silent_p.G319G	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	422					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CACTTGAAGGCTTCCATAACC	0.333000														17			8		0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24776700	24776700	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:24776700C>T	uc001won.3	-	1	187	c.63G>A	c.(61-63)tcG>tcA	p.S21S	CIDEB_uc001woo.3_Silent_p.S21S|CIDEB_uc001wop.3_Silent_p.S21S|LTB4R2_uc010alo.3_5'Flank|LTB4R2_uc001wor.3_5'Flank	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	Homo sapiens cell death-inducing DFFA-like effector b (CIDEB), mRNA.	21					DNA damage response, signal transduction resulting in induction of apoptosis|apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GTCCAAACTCCGAGCTTATAT	0.552000														38			17		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654900	99654900	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:99654900G>A	uc003uso.3	+	1	415	c.271G>A	c.(271-273)Gag>Aag	p.E91K	ZSCAN21_uc011kje.1_Missense_Mutation_p.E90K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E90K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	91	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACTGGTGCTGGAGCAGTTCCT	0.632000														16			45		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740902	110740902	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:110740902C>T	uc009wfq.3	+	11	2481	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	674					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGATGAGACCCGCTTCATCCT	0.607000														25			13		0	0	1	0	0
LINGO1	84894	broad.mit.edu	37	15	77907869	77907869	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:77907869C>A	uc002bct.1	-	1	432	c.380G>T	c.(379-381)cGc>cTc	p.R127L	LINGO1_uc002bcu.1_Missense_Mutation_p.R121L	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 1 (LINGO1), mRNA.	127					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGGTTGCTGCGGAGACCCAG	0.602000														14			14		1.5842e-08	1.60217e-08	1	1	0
PDCL3	79031	broad.mit.edu	37	2	101188240	101188240	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:101188240G>A	uc002tao.2	+	4	669	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	186					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTGTTTGGCGGCATGAACCTG	0.498000														97			4		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3592832	3592832	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:3592832G>A	uc002fwi.3	-	6	1106	c.707C>T	c.(706-708)tCc>tTc	p.S236F	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.S176F|P2RX5_uc002fwk.3_Missense_Mutation_p.S235F|P2RX5_uc002fwj.3_Missense_Mutation_p.S211F|P2RX5_uc002fwl.3_Missense_Mutation_p.S212F	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	236					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCGGATCACGGAGCCCAGTCG	0.622000														42			33		0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401963	27401963	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:27401963C>T	uc003xfu.3	+	18	1673	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	EPHX2_uc010luv.3_Missense_Mutation_p.P465L|EPHX2_uc003xfv.3_Missense_Mutation_p.P478L|EPHX2_uc010luw.3_Missense_Mutation_p.P465L	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	531	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TCCCCCAGGCCAACCGAGGTG	0.527000														31			35		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80773077	80773077	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:80773077G>A	uc010ysh.2	+	9	1434	c.1429G>A	c.(1429-1431)Gtt>Att	p.V477I	CTNNA2_uc010yse.2_Missense_Mutation_p.V477I|CTNNA2_uc010ysf.2_Missense_Mutation_p.V477I|CTNNA2_uc010ysg.2_Missense_Mutation_p.V477I|CTNNA2_uc010ysi.2_Missense_Mutation_p.V109I	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	477					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACAGAGCAAAGTTGCTCAGGA	0.507000														10			7		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922587	43922587	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:43922587G>A	uc010wka.2	+	0	332	c.315G>A	c.(313-315)acG>acA	p.T105T	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	105						integral to membrane	aspartic-type endopeptidase activity										GCTTCCACACGAAAGGCTGGC	0.667000														16			12		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111546	145111547	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:145111546_145111547CC>TT	uc003zar.3	-	12	1900_1901	c.1818_1819GG>AA	c.(1816-1821)ggggac>ggAAac	p.D607N	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	607							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCCGAAGTCCCCCGCACGGG	0.673000														29			12		0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138684595	138684595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:138684595C>T	uc011mwn.1	-	18	2247	c.2241G>A	c.(2239-2241)tgG>tgA	p.W747*	MCF2_uc004fav.3_Nonsense_Mutation_p.W618*|MCF2_uc004fau.3_Nonsense_Mutation_p.W602*|MCF2_uc010nsh.2_Nonsense_Mutation_p.W602*|MCF2_uc011mwm.2_Nonsense_Mutation_p.W563*|MCF2_uc011mwl.2_Nonsense_Mutation_p.W579*|MCF2_uc011mwo.1_Nonsense_Mutation_p.W678*|MCF2_uc004faw.2_Nonsense_Mutation_p.W662*	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	602	PH.				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	Rho guanyl-nucleotide exchange factor activity|protein binding	p.D747N(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)					AATACTTCCTCCAAATTGTTT	0.289000														21			54		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16232340	16232341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:16232340_16232341CC>TT	uc010bvi.3	+	29	4587_4588	c.4412_4413CC>TT	c.(4411-4413)acc>aTT	p.T1471I	ABCC1_uc010bvj.3_Missense_Mutation_p.T1412I|ABCC1_uc010bvk.3_Missense_Mutation_p.T1415I|ABCC1_uc010bvl.3_Intron|ABCC1_uc010bvm.3_Missense_Mutation_p.T1356I|ABCC1_uc002del.4_Missense_Mutation_p.T1365I	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1471	ABC transporter 2.				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)	ATCCAGTCCACCATCCGGACAC	0.609000														11			11		0	0	1	0	0
LSG1	55341	broad.mit.edu	37	3	194387226	194387226	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:194387226T>C	uc003fui.3	-	2	617	c.302A>G	c.(301-303)aAg>aGg	p.K101R		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	101					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-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;7.55e-06)		ATGGAGCTTCTTAATTCTCTG	0.398000														37			26		0	0	1	0	0
HNRPLL	92906	broad.mit.edu	37	2	38800437	38800437	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:38800437A>G	uc021vgc.1	-	7	1417	c.1007T>C	c.(1006-1008)gTt>gCt	p.V336A	HNRPLL_uc002rqv.3_Missense_Mutation_p.V31A|HNRPLL_uc021vgb.1_Missense_Mutation_p.V331A	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	336	RRM 3.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				AACCATTACAACTGAACCAGA	0.388000														14			16		0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885272	77885272	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:77885272G>A	uc001ozb.3	-	1	404	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21_uc021qnx.1_Missense_Mutation_p.A110V	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 21 (KCTD21), mRNA.	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602000														24			19		0	0	1	0	0
PAIP2	51247	broad.mit.edu	37	5	138699534	138699534	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:138699534A>G	uc003led.3	+	1	238	c.61A>G	c.(61-63)Aac>Gac	p.N21D	PAIP2_uc003lee.3_Missense_Mutation_p.N21D|PAIP2_uc003lef.3_Missense_Mutation_p.N21D	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2 (PAIP2), transcript variant 2, mRNA.	21					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTGATTATTAACGGTCATTC	0.368000														13			13		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518536	93518536	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:93518536G>A	uc010tif.2	+	8	1928	c.1562_splice	c.e8-1	p.W521_splice		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	521						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCTCTACAGGGATGCCAGATG	0.428000														9			49		0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958793	78958793	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:78958793C>T	uc001din.3	+	1	631	c.365C>T	c.(364-366)cCa>cTa	p.P122L	PTGFR_uc001dim.3_Missense_Mutation_p.P122L	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	122					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGTCTGTGCCCACTTCTTCTA	0.388000														42			16		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466690	50466690	+	Missense_Mutation	SNP	A	C	C	rs61747164		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:50466690A>C	uc001vdk.2	+	0	2146	c.1964A>C	c.(1963-1965)cAt>cCt	p.H655P						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GGGTCAGTGCATTCAGAAATG	0.403000														152			6		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33335742	33335742	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:33335742G>A	uc021vft.1	+	3	980	c.957G>A	c.(955-957)ggG>ggA	p.G319G		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	319					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCCAGAAGGGGATTTCAGGAG	0.488000														37			24		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063725	73063725	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:73063725G>A	uc004ebm.1	-	0		c.8864C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AGGTGATGGGGTATGACCTTA	0.403000														4			5		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18776857	18776857	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:18776857G>A	uc003zne.4	+	18	2782	c.2630G>A	c.(2629-2631)aGg>aAg	p.R877K		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	877	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCAGGCAGAGGAAGCTGCAC	0.687000														1			5		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829072	57829072	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:57829072C>T	uc002yan.3	+	4	4308	c.4308C>T	c.(4306-4308)ccC>ccT	p.P1436P		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1436						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)					TGCCTCTACCCCCTGGCAAAG	0.527000														28			18		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832714	46832714	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:46832714C>T	uc002peh.3	+	11	1722	c.1691C>T	c.(1690-1692)cCc>cTc	p.P564L	HIF3A_uc002peg.4_Missense_Mutation_p.P564L|HIF3A_uc021uwf.1_Missense_Mutation_p.P508L|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P495L|HIF3A_uc002pel.3_Missense_Mutation_p.P562L|HIF3A_uc010xxz.2_Missense_Mutation_p.P513L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	564	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCATCCTCTCCCATGGCTGGG	0.662000														5			9		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997651	115997652	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:115997651_115997652GG>AA	uc003ibu.3	-	1	1220_1221	c.541_542CC>TT	c.(541-543)ccg>TTg	p.P181L	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	181	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAGGTTTAACGGAAAGCCTTTT	0.376000														25			18		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12317359	12317359	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:12317359G>A	uc001rah.4	-	8	2042	c.1900C>T	c.(1900-1902)Ctt>Ttt	p.L634F	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L634F	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	634	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAAAACAAAAGGAAAGCCTCT	0.453000														39			22		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21101739	21101739	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:21101739G>A	uc001iqi.3	-	23	2874	c.2477C>T	c.(2476-2478)cCt>cTt	p.P826L	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.P163L|NEBL_uc021pnu.1_Missense_Mutation_p.P163L	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	826					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACGATGTGAGGGTGGACCCC	0.547000														22			5		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102039	66102039	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:66102039G>A	uc001dci.3	+	19	3228	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	947					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCAACAACAGATCTTGAAAA	0.408000														39			24		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633017	32633018	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:32633017_32633018GG>AA	uc003zrg.1	-	0	2650_2651	c.2560_2561CC>TT	c.(2560-2562)cct>TTt	p.P854F	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	854					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAATGGGAAGGAAAGGCTTTT	0.441000														42			19		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97454834	97454834	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:97454834C>T	uc010how.1	+	15	3043	c.3000C>T	c.(2998-3000)caC>caT	p.H1000H	EPHA6_uc003drt.3_Silent_p.H392H|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	905	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATCTCTACACCAGCTGATGC	0.453000														16			8		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14705358	14705358	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:14705358G>A	uc010dzn.2	+	4	384	c.307G>A	c.(307-309)Gca>Aca	p.A103T	CLEC17A_uc010dzo.2_Missense_Mutation_p.A103T|CLEC17A_uc002mzh.2_Missense_Mutation_p.A86T|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Missense_Mutation_p.A103T	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	103						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ACCTCCAAGGGCAGGTGAGTT	0.582000														9			11		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071568	197071568	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:197071568C>T	uc001gtu.3	-	17	7070	c.6813G>A	c.(6811-6813)agG>agA	p.R2271R	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.R119R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2271	IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTAAATCTCCTCTGAATGA	0.358000														51			26		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713681	70713681	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:70713681C>T	uc010ttg.2	-	0	838	c.187G>A	c.(187-189)Gag>Aag	p.E63K						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AATACATCCTCTTGCACCTTT	0.388000														33			24		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216216	55216216	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:55216216C>T	uc003pcm.1	+	4	622	c.536C>T	c.(535-537)cCt>cTt	p.P179L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	179						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)			CAAAATATACCTTTTAACATT	0.438000														71			40		0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537279	52537279	+	Silent	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:52537279G>T	uc002pyk.3	-	4	1971	c.1653C>A	c.(1651-1653)acC>acA	p.T551T		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCGTTTCATGGTGAAGCCTT	0.408000														56			27		2.41591e-17	2.47134e-17	1	1	0
EPHA7	2045	broad.mit.edu	37	6	94120310	94120310	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:94120310C>T	uc003poe.3	-	2	982	c.741G>A	c.(739-741)agG>agA	p.R247R	EPHA7_uc003pof.3_Silent_p.R247R|EPHA7_uc011eac.2_Silent_p.R247R|EPHA7_uc003pog.4_Silent_p.R247R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	247	Cys-rich.					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)		TGCAGTGCATCCTGGGGGCGT	0.473000														24			15		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316171	12316171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:12316171C>T	uc001mkg.1	+	2	1484	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	398					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCACTTTTTTCCTCCCTCAGA	0.453000														65			40		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831375	61831375	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:61831375C>T	uc001jky.3	-	36	9602	c.9264G>A	c.(9262-9264)gaG>gaA	p.E3088E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3088					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						AAGTTTTTATCTCTTTCCCTC	0.423000														78			8		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43234015	43234015	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:43234015C>T	uc002oue.3	-	3	1035	c.903G>A	c.(901-903)acG>acA	p.T301T	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	301	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.483000														115			46		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152826529	152826529	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:152826529C>T	uc021zhb.1	-	6	808	c.585G>A	c.(583-585)caG>caA	p.Q195Q	SYNE1_uc003qot.4_Silent_p.Q202Q|SYNE1_uc003qou.4_Silent_p.Q195Q|SYNE1_uc010kjb.1_Silent_p.Q195Q|SYNE1_uc003qpa.1_Silent_p.Q195Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	195	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.Q195H(3)|p.Q202H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATTCCAGTCTGCCTTTGTG	0.403000										HNSCC(10;0.0054)				18			10		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91369249	91369249	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:91369249T>C	uc001xys.2	-	8	1237	c.1022A>G	c.(1021-1023)gAt>gGt	p.D341G	RPS6KA5_uc010twi.1_Missense_Mutation_p.D262G|RPS6KA5_uc001xyt.3_Missense_Mutation_p.D341G|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	341	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATCTAATTCATCTCGAATGAC	0.408000														20			18		0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691607	26691607	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:26691607C>T	uc001bmg.1	-	3	548	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	ZNF683_uc001bmh.1_Missense_Mutation_p.G144R|ZNF683_uc009vsj.1_Missense_Mutation_p.G144R	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGGGGGCCCCCTCGCCAGCT	0.597000														3			5		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90168542	90168542	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:90168542G>A	uc002boe.3	+	19	5001	c.5001G>A	c.(4999-5001)tgG>tgA	p.W1667*	C15orf42_uc021sug.1_Nonsense_Mutation_p.W1666*	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1667				W -> R (in Ref. 3; BAC11165).	DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGTTCCTTGGACACCATCCC	0.597000														46			22		0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138715763	138715763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:138715763G>A	uc003leg.3	-	6	759	c.662C>T	c.(661-663)tCc>tTc	p.S221F	SLC23A1_uc003leh.3_Missense_Mutation_p.S217F	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	217					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGGAGAATGGAGCTGGGGGC	0.622000														4			5		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520130	113520130	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:113520130C>T	uc010ljy.1	-	3	1048	c.1017G>A	c.(1015-1017)agG>agA	p.R339R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	339					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAATGTATTCCTTTCATCTC	0.328000														52			16		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23812054	23812054	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:23812054G>A	uc001ywh.4	+	0	1601	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E375E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	375						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTCCCAGTGAGTTCTGGGTGG	0.517000														60			17		0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38241235	38241235	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:38241235G>A	uc001ize.1	-	5	1296	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	ZNF25_uc001izf.1_Silent_p.P361P	NM_145011	NP_659448	P17030	ZNF25_HUMAN	Homo sapiens zinc finger protein 25 (ZNF25), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TGCATGCATAGGGCTTCTCTC	0.443000														36			16		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96415967	96415967	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:96415967C>T	uc001vmq.3	+	7	1036	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	307					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATATACAGTTCGTTCAAAGGA	0.368000														8			56		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553645	39553645	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:39553645C>A	uc002hwn.3	-	0	200	c.147G>T	c.(145-147)gaG>gaT	p.E49D	KRT31_uc010cxn.3_Missense_Mutation_p.E49D	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	49	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGAAGGAGCCCTCGCAGAACC	0.647000														68			4		1	1	1	1	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:56757303G>A	uc010rjp.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000														9			6		0	0	1	0	0
CAMLG	819	broad.mit.edu	37	5	134079737	134079737	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:134079737C>T	uc003kzt.3	+	2	835	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	CAMLG_uc003kzu.3_Missense_Mutation_p.S78F	NM_001745	NP_001736	P49069	CAMLG_HUMAN	Homo sapiens calcium modulating ligand (CAMLG), mRNA.	232					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CAAATATTTTCCCAAGGTAAA	0.289000														5			9		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432791	10432791	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:10432791C>A	uc010coi.3	-	24	3253	c.3125G>T	c.(3124-3126)gGg>gTg	p.G1042V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G1042V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1042					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCAAGGACCCTTCAAGCTA	0.388000														28			12		1.36491e-13	1.39091e-13	1	1	0
LMAN1	3998	broad.mit.edu	37	18	56998709	56998709	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:56998709G>A	uc002lhz.3	-	11	1469	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	479					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TAATGAAGTGGACCGTAGACA	0.348000														18			13		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727420	141727420	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:141727420G>A	uc003vwy.3	+	9	1160	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	369	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTCATTGGGCGGCCAGCCCTT	0.428000														14			19		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723296	58723296	+	Missense_Mutation	SNP	G	A	A	rs144071638		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:58723296G>A	uc001nnh.2	+	6	848	c.798G>A	c.(796-798)atG>atA	p.M266I	GLYATL1_uc001nnf.3_Missense_Mutation_p.M235I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M235I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M235I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	235						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCTACAGCATGGAAAAATACC	0.493000														21			15		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142217587	142217587	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:142217587G>A	uc003eux.4	-	31	5532	c.5410C>T	c.(5410-5412)Ctg>Ttg	p.L1804L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1804	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCTGTCCCAGTCTGACACTC	0.383000								Other conserved DNA damage response genes						12			9		0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72891523	72891523	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:72891523G>A	uc003dpf.3	-	2	346	c.239C>T	c.(238-240)aCc>aTc	p.T80I	SHQ1_uc010hod.3_5'UTR	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	80	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTGGCCAGGGGTTTCTTTGGG	0.388000														20			13		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39306815	39306815	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:39306815C>T	uc003jlv.4	-	8	1409	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	440	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCTTTTCTTTCAGTTCAAATG	0.393000														28			13		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643951	37643951	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:37643951G>A	uc002ofo.1	-	4	1081	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	ZNF585A_uc002ofm.1_Missense_Mutation_p.H229Y|ZNF585A_uc002ofn.1_Missense_Mutation_p.H229Y	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAATCAAATGGGTCTTCTGG	0.423000														73			113		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109819134	109819134	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:109819134G>A	uc003ptn.2	-	36	5158	c.5081C>T	c.(5080-5082)cCc>cTc	p.P1694L	AKD1_uc011eas.1_Missense_Mutation_p.P79L	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1694					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						AGGTGCTAAGGGAGGCACGTA	0.463000														23			16		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523409	23523410	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:23523409_23523410GG>AA	uc003jgo.3	+	8	1074_1075	c.892_893GG>AA	c.(892-894)ggg>AAg	p.G298K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	298	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K297*(1)		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						GATCACCAAGGGGAGAAACTGC	0.436000										HNSCC(3;0.000094)				20			10		0	0	1	0	0
P2RX4	5025	broad.mit.edu	37	12	121659900	121659900	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:121659900C>T	uc001tzr.3	+	3	662	c.358C>T	c.(358-360)Cca>Tca	p.P120S	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Intron|P2RX4_uc009zxc.3_Missense_Mutation_p.P120S|P2RX4_uc010szt.2_Missense_Mutation_p.P19S|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	120					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTTCCAGATTCCAGATGCGAC	0.627000														85			32		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096937	36096937	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:36096937G>A	uc001wtj.3	-	32	5089	c.4698C>T	c.(4696-4698)acC>acT	p.T1566T	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Silent_p.T1566T|RALGAPA1_uc010tpv.2_Silent_p.T1579T|RALGAPA1_uc010tpw.1_Silent_p.T1613T	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1566	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						aggacactaaggttgtattat	0.388000														21			15		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42808946	42808946	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:42808946C>T	uc010goq.3	+	4	649	c.303C>T	c.(301-303)atC>atT	p.I101I	MX1_uc002yzh.3_Silent_p.I101I|MX1_uc002yzi.3_Silent_p.I101I	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	101					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCCTAGGGATCGTGACCAGAT	0.478000														19			16		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29494916	29494916	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:29494916G>A	uc011akm.1	+	2	380	c.327G>A	c.(325-327)aaG>aaA	p.K109K	KREMEN1_uc003ael.3_Silent_p.K109K|KREMEN1_uc011akn.2_5'UTR	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	107	Kringle.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TCTACTGGAAGTACTGTGAGA	0.502000														16			18		0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57340312	57340312	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:57340312A>G	uc003hbv.3	+	3	487	c.447A>G	c.(445-447)acA>acG	p.T149T	SRP72_uc010ihe.3_Silent_p.T149T	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	149					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGAGGAAAACAAACCTTTCAG	0.393000														28			16		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60578913	60578913	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:60578913G>A	uc002ybs.3	-	7	2245	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	749					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGGCTCCTGGCTTCGGAGGC	0.652000														23			16		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436876	16436876	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:16436876C>T	uc003zml.3	-	5	1456	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	BNC2_uc011lmw.2_Missense_Mutation_p.G344E|BNC2_uc003zmm.3_Missense_Mutation_p.G397E|BNC2_uc003zmq.1_Missense_Mutation_p.G453E|BNC2_uc003zmr.1_Missense_Mutation_p.G476E|BNC2_uc003zmp.1_Missense_Mutation_p.G467E|BNC2_uc010mij.1_Missense_Mutation_p.G361E|BNC2_uc011lmv.2_Missense_Mutation_p.G265E|BNC2_uc003zmo.1_Missense_Mutation_p.G361E|BNC2_uc003zmj.3_Missense_Mutation_p.G204E|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G204E|BNC2_uc003zmn.1_Missense_Mutation_p.G204E	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAACACTCTTCCTTTCCTAGA	0.438000														5			11		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227958978	227958978	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:227958978C>T	uc021vxr.1	-	18	1333	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	COL4A4_uc021vxs.1_Missense_Mutation_p.G411E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	411	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G411*(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCTTGTGGCCC	0.478000														19			5		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191848400	191848401	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:191848400_191848401GG>AA	uc010fse.2	-	15	1845_1846	c.1413_1414CC>TT	c.(1411-1416)atcctt>atTTtt	p.L472F	STAT1_uc021vue.1_Missense_Mutation_p.L284F|STAT1_uc002usj.2_Missense_Mutation_p.L472F|STAT1_uc002usk.2_Missense_Mutation_p.L472F|STAT1_uc002usl.2_Missense_Mutation_p.L474F|STAT1_uc010fsf.1_Missense_Mutation_p.L284F	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	472					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|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	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|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)	TTGTACCAAAGGATGGAGGCCC	0.535000														56			14		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471750	47471750	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:47471750C>T	uc001rpm.3	-	2	1691	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.G346R|AMIGO2_uc001rpl.3_Missense_Mutation_p.G346R|AMIGO2_uc021qxg.1_Missense_Mutation_p.G346R	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	346	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCAGACTTCCATTGTGAAAC	0.428000														48			33		0	0	1	0	0
ADIPOQ	9370	broad.mit.edu	37	3	186570910	186570910	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:186570910G>A	uc010hyy.3	+	2	198	c.63G>A	c.(61-63)acG>acA	p.T21T	ADIPOQ_uc003fra.3_Silent_p.T21T	NM_001177800	NP_004788	Q15848	ADIPO_HUMAN	Homo sapiens adiponectin, C1Q and collagen domain containing (ADIPOQ), transcript variant 1, mRNA.	21					brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of blood pressure|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGGAAACCACGACTCAAGGGC	0.627000														27			29		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888431	38888431	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:38888431C>T	uc021wvy.1	-	25	5329	c.5130G>A	c.(5128-5130)aaG>aaA	p.K1710K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1710					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCCATGAACTTCTCTTCCA	0.463000														67			50		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910028	39910028	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:39910028G>A	uc001zki.3	-	10	1825	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	536								p.S536F(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATCTAAGAAGGAGGGCCTTTT	0.403000														53			18		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123021960	123021960	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:123021960C>T	uc003egh.2	-	13	2666	c.2666G>A	c.(2665-2667)aGc>aAc	p.S889N	ADCY5_uc021xdd.1_Missense_Mutation_p.S539N|ADCY5_uc003egg.2_Missense_Mutation_p.S522N|ADCY5_uc003egi.1_Missense_Mutation_p.S448N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	889					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ATCGCCCAGGCTGTAGTTGAC	0.642000														24			14		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39342232	39342232	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:39342232C>T	uc003jlv.4	-	1	233	c.144G>A	c.(142-144)tgG>tgA	p.W48*		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	48	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACCATTCACTCCAGGGGCTCA	0.463000														25			13		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583173	135583173	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:135583173G>A	uc003lbn.2	-	6	2052	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	TRPC7_uc010jef.2_Silent_p.N546N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.N161N|TRPC7_uc010jeh.2_Silent_p.N549N|TRPC7_uc010jei.2_Silent_p.N494N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	610					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAACGCTGGGTTGTATTTGG	0.473000														16			7		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85975253	85975253	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:85975253T>C	uc001pbp.3	+	6	1140	c.674T>C	c.(673-675)cTg>cCg	p.L225P	EED_uc010rtm.2_Missense_Mutation_p.L225P|EED_uc001pbq.3_Missense_Mutation_p.L225P|EED_uc001pbr.3_Missense_Mutation_p.L225P|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	225	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ACGGACACTCTGGTGGCAATA	0.388000														41			30		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167805771	167805771	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:167805771C>T	uc001ger.3	-	22	3383	c.3085G>A	c.(3085-3087)Gaa>Aaa	p.E1029K	ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Missense_Mutation_p.E876K|ADCY10_uc009wvk.3_Missense_Mutation_p.E937K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1029					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTCTTATTTCTTCAGGACTG	0.363000														23			29		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52262290	52262290	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:52262290C>T	uc002lfq.1	+	1	302	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	86						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		CCCAGGAATCCTTGCACATTC	0.458000														43			32		0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32498826	32498826	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:32498826C>T	uc001bub.3	+	3	768	c.662C>T	c.(661-663)gCc>gTc	p.A221V	KHDRBS1_uc001bua.1_Missense_Mutation_p.A182V|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	221					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCAAATATGCCCACTTGAAT	0.463000														20			12		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577266	41577266	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:41577266G>A	uc003xok.3	-	9	1104	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.T340T|ANK1_uc003xoj.3_Silent_p.T340T|ANK1_uc003xol.3_Silent_p.T340T|ANK1_uc003xom.3_Silent_p.T373T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	340	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGGAGTGGGGTCAGGTGGT	0.607000														73			54		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328537	80328537	+	Missense_Mutation	SNP	C	T	T	rs150499437		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:80328537C>T	uc003hlu.3	-	0	836	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	273					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.G273E(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTTGGCTTGTCCCTCCTGGAA	0.458000														28			25		0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967343	58967343	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:58967343C>T	uc002qsv.1	+	3	1139	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	ZNF324B_uc002qsu.1_Silent_p.S334S|ZNF324B_uc010euq.1_Silent_p.S344S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCGCTGCTCCGAGTGCGGCA	0.687000														4			11		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841701	5841701	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:5841701C>T	uc001qnm.2	-	14	1602	c.1530G>A	c.(1528-1530)acG>acA	p.T510T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	515						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CGCCACACTCCGTCGTGTTTG	0.463000														24			6		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519901	69519901	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:69519901G>A	uc021xow.1	-	4	1325	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	389					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCACCATAGGGATCCCATGGT	0.448000														83			33		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9260172	9260172	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:9260172G>A	uc001qvk.1	-	7	940	c.827C>T	c.(826-828)tCc>tTc	p.S276F	A2M_uc009zgk.1_Missense_Mutation_p.S126F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	276					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GTGGCAGTCGGAAGCGTCACT	0.438000														30			22		0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29139878	29139878	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:29139878C>T	uc003aea.3	+	1	286	c.245C>T	c.(244-246)tCc>tTc	p.S82F	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	82	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCAACCGTTCCTTCAGAGTT	0.448000														36			35		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232751	132232751	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:132232751G>A	uc003kyd.3	-	10	1979	c.1571C>T	c.(1570-1572)aCg>aTg	p.T524M	AFF4_uc011cxk.2_Missense_Mutation_p.T202M|AFF4_uc003kye.1_Missense_Mutation_p.T524M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	524					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCGGAACTCGTTTCTTTAGG	0.507000														74			8		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41100957	41100957	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:41100957G>A	uc002xkg.3	-	7	1583	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PTPRT_uc010ggj.3_Missense_Mutation_p.P467S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	467	Fibronectin type-III 2.				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)				CGGCCCTCGGGGTTAGACAGC	0.592000														20			17		0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807185	152807185	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:152807185C>T	uc004fht.1	+	2	591	c.465C>T	c.(463-465)atC>atT	p.I155I	ATP2B3_uc004fhs.1_Silent_p.I155I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	155					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCTGGATCGAGGGGGCTG	0.617000														18			34		0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96443145	96443145	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:96443145G>A	uc003kmy.4	-	2	546	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	102										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CATTGAAGAGGGAGTTGATCA	0.517000														30			15		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025333	34025333	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:34025333C>T	uc010gfc.1	-	0	617	c.376G>A	c.(376-378)Gga>Aga	p.G126R	GDF5_uc002xck.1_Missense_Mutation_p.G126R	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	126					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGAAGCTGTCCTTTTGGGGTC	0.647000														46			28		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10645339	10645339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:10645339G>A	uc010rcc.1	-	9	1819	c.1433C>T	c.(1432-1434)gCt>gTt	p.A478V	MRVI1_uc010rcb.1_Missense_Mutation_p.A470V|MRVI1_uc001miw.2_Missense_Mutation_p.A469V|MRVI1_uc001mix.3_Missense_Mutation_p.A163V|MRVI1_uc001miz.2_Missense_Mutation_p.A387V|MRVI1_uc010rcd.1_Missense_Mutation_p.A272V|MRVI1_uc009ygd.1_Missense_Mutation_p.A163V|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	451					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCCTGCTCAGCTGCTTCACT	0.463000														19			9		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18793653	18793653	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:18793653C>T	uc003wza.3	-	2	125	c.22_splice	c.e2-1	p.A8_splice		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	8					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATGTCTCTGCCTGCAAAATAA	0.333000														41			31		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44952563	44952563	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:44952563G>A	uc003coc.4	+	11	1793	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	574					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAGTCTAAGGAAATCATGGC	0.468000														36			10		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35195852	35195852	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:35195852G>A	uc002yta.1	+	24	3346	c.3078G>A	c.(3076-3078)ggG>ggA	p.G1026G	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.G905G|ITSN1_uc002ysy.3_Silent_p.G1021G|ITSN1_uc002ysx.3_Silent_p.G984G|ITSN1_uc002yth.4_Intron|ITSN1_uc002ysz.3_Intron|ITSN1_uc010gmg.3_Intron|ITSN1_uc010gmh.3_Intron|ITSN1_uc002ysw.3_Silent_p.G1026G|ITSN1_uc010gmi.3_Silent_p.G989G|ITSN1_uc002ytb.1_Silent_p.G1021G|ITSN1_uc010gmk.3_Intron|ITSN1_uc010gml.3_Intron|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.G1021G|ITSN1_uc010gmm.1_Intron|ITSN1_uc002yte.3_Intron|ITSN1_uc021wip.1_Intron|ITSN1_uc002ytg.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1026	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCAGCAAGGGGATGTGATTT	0.448000														34			21		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682527	47682527	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:47682527G>A	uc003oyz.1	+	6	1717	c.1717G>A	c.(1717-1719)Gtc>Atc	p.V573I	GPR115_uc003oza.1_Missense_Mutation_p.V516I|GPR115_uc003ozb.1_Missense_Mutation_p.V516I|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	516					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCGAATGATGGTCATTGGCTT	0.448000														61			45		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848231	123848231	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:123848231G>A	uc001pzm.1	-	0	168	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGGATGAGGAGATTCCCAG	0.527000														8			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229437	140229437	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140229437C>T	uc003lhu.2	+	0	2081	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.P453S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	467	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACAACGCACCAGCGTTCGC	0.672000														64			38		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57883231	57883232	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:57883231_57883232GG>AA	uc003hcl.1	+	14	2021_2022	c.1978_1979GG>AA	c.(1978-1980)ggg>AAg	p.G660K	POLR2B_uc011cae.1_Missense_Mutation_p.G653K|POLR2B_uc011caf.1_Missense_Mutation_p.G585K|POLR2B_uc003hcm.1_Missense_Mutation_p.G153K	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	660					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTGGCCAGTGGGGTAGTGGAG	0.366000														27			13		0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202352604	202352604	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:202352604C>T	uc002uyf.3	-	15	5246	c.5194G>A	c.(5194-5196)Gat>Aat	p.D1732N	ALS2CR11_uc002uye.3_Missense_Mutation_p.D535N|ALS2CR11_uc010fti.3_3'UTR	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	535										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TCATGTAAATCCTCAAATTTA	0.299000														35			19		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43519064	43519064	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:43519064C>T	uc002zag.1	+	6	960	c.960C>T	c.(958-960)gtC>gtT	p.V320V	UMODL1_uc002zad.1_Silent_p.V248V|UMODL1_uc002zae.1_Silent_p.V248V|UMODL1_uc002zaf.1_Silent_p.V320V|UMODL1_uc010gow.1_Silent_p.V112V|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.V65V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	320	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTACGTGGTCCTCAACGTCA	0.488000														56			34		0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29699024	29699024	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:29699024G>A	uc002nsd.2	-	1	367	c.256C>T	c.(256-258)Cct>Tct	p.P86S		NM_006003	NP_005994	P47985	UCRI_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1), nuclear gene encoding mitochondrial protein, mRNA.	86					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GAGAAGTCAGGCACCTTGATG	0.433000														38			13		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962098	34962098	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:34962098G>A	uc004ddi.2	+	0	1186	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	384								p.W383*(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCATTTTTGGGAATCCTGTCC	0.557000														25			23		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52942524	52942524	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:52942524C>T	uc001sao.3	-	3	844	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	258	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TCTCCTGGTCCATGGATTCCA	0.522000														40			26		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168175341	168175342	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:168175341_168175342GG>AA	uc010jjg.3	-	19	2655_2656	c.2235_2236CC>TT	c.(2233-2238)gccctc>gcTTtc	p.L746F	SLIT3_uc003mab.3_Missense_Mutation_p.L746F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	746	LRRNT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCTGGGGAGGGCGCGGAGCC	0.619000														47			31		0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350920	23350920	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:23350920A>T	uc010gdb.3	+	6	2152	c.1978A>T	c.(1978-1980)Atg>Ttg	p.M660L	GZF1_uc002wsy.3_Missense_Mutation_p.M660L|GZF1_uc010zsq.2_Missense_Mutation_p.M184L|GZF1_uc010zsr.2_Missense_Mutation_p.M169L|GZF1_uc002wsz.3_Missense_Mutation_p.M660L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	660					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTACCTACCATGCAGGAGAA	0.522000														21			17		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81744241	81744241	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:81744241G>A	uc010tvu.2	-	3	1612	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STON2_uc001xvk.1_Missense_Mutation_p.R472C|STON2_uc010tvt.2_Missense_Mutation_p.R269C	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	472	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.R472S(2)		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)		TTGAACTCACGGAATGGTTTT	0.488000														73			56		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69968623	69968623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:69968623C>T	uc001suy.3	+	9	1925	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	FRS2_uc001suz.3_Missense_Mutation_p.A472V|FRS2_uc009zrj.3_Missense_Mutation_p.A472V|FRS2_uc009zrk.3_Missense_Mutation_p.A472V	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	472					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGCTGTATGCCGTGATAGAC	0.483000														31			22		0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101344505	101344505	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:101344505G>A	uc003hvr.3	-	5	651	c.472C>T	c.(472-474)Cca>Tca	p.P158S	EMCN_uc011cel.2_Missense_Mutation_p.P145S|EMCN_uc011cem.2_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	158						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ATTGTAACTGGTATTGAGGTT	0.403000														17			18		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497610	34497610	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:34497610G>A	uc003ojo.3	+	5	1038	c.780G>A	c.(778-780)gaG>gaA	p.E260E	PACSIN1_uc003ojp.3_Silent_p.E260E	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	260					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCTGGCTGAGAACAGCAGGT	0.587000														7			6		0	0	1	0	0
ZNF157	7712	broad.mit.edu	37	X	47272283	47272283	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:47272283G>A	uc004dhr.1	+	3	880	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	271					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCACACAGGGGAGAAACCCTA	0.433000														12			7		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23928772	23928772	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:23928772T>C	uc001uon.2	-	7	2568	c.1979A>G	c.(1978-1980)tAc>tGc	p.Y660C	SACS_uc001uoo.2_Missense_Mutation_p.Y513C|SACS_uc001uop.1_Missense_Mutation_p.Y447C|SACS_uc001uoq.1_Missense_Mutation_p.Y513C	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	660					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCTCACTGTAGGCTTGGTC	0.507000														10			73		0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86354322	86354322	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:86354322C>T	uc003ydj.3	+	2	336	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	85					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						GGGTCCTCTCCCTGGACCCTA	0.507000														72			40		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541048	55541048	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:55541048C>A	uc003xsd.1	+	3	4754	c.4606C>A	c.(4606-4608)Cca>Aca	p.P1536T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1536					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCAACACCACCATCTTTAGA	0.313000														24			12		6.40141e-05	6.43751e-05	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158509737	158509737	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:158509737C>T	uc003qqx.2	+	23	3495	c.3389C>T	c.(3388-3390)tCc>tTc	p.S1130F	SYNJ2_uc003qqw.2_Missense_Mutation_p.S1130F|SYNJ2_uc003qqy.2_Missense_Mutation_p.S893F|SYNJ2_uc003qqz.2_Missense_Mutation_p.S747F|SYNJ2_uc003qra.2_Missense_Mutation_p.S473F	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1130							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCCATCTCCTCCGGCACCCAT	0.493000														42			29		0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428173	115428173	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:115428173T>C	uc001efr.3	+	12	1137	c.928T>C	c.(928-930)Tta>Cta	p.L310L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.L310L|SYCP1_uc009wgw.3_Silent_p.L310L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	310					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GAGTGAAAACTTAAAACAATC	0.264000														18			10		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551795	248551795	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:248551795G>A	uc001iei.1	+	0	886	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D296N(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGAACAGGGATGTGATGGG	0.453000														11			6		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6748684	6748684	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:6748684C>T	uc003jdx.1	+	7	946	c.817C>T	c.(817-819)Cca>Tca	p.P273S	PAPD7_uc011cmn.2_Missense_Mutation_p.P273S|PAPD7_uc010itl.1_Missense_Mutation_p.P93S	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	273					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGGTCCTATCCAAACAGAGA	0.552000														93			34		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063828	3063829	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:3063828_3063829CC>TT	uc010uwo.1	+	0	1372_1373	c.465_466CC>TT	c.(463-468)gccctc>gcTTtc	p.L156F		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	156					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGCTGAGGCCCTCAAGCGGGA	0.698000														23			23		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41550967	41550967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:41550967G>A	uc002yyq.1	-	14	3286	c.2834C>T	c.(2833-2835)gCc>gTc	p.A945V	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	945	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATGATGGTGGCCGAGTTCAG	0.498000														24			7		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220315923	220315923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:220315923C>T	uc010fwg.3	+	4	2179	c.2179C>T	c.(2179-2181)Ccc>Tcc	p.P727S	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	727	Ig-like 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTTGAGATCCCCCTGCAGAA	0.602000														57			33		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875363	33875363	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:33875363G>A	uc021wck.1	-	3	1337	c.1219C>T	c.(1219-1221)Cct>Tct	p.P407S	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	407										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TAGAGCCCAGGAGGGGAGCCG	0.627000														16			9		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98581897	98581897	+	Silent	SNP	C	T	T	rs56256674	byFrequency	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:98581897C>T	uc003upp.3	+	59	9425	c.9216C>T	c.(9214-9216)atC>atT	p.I3072I	TRRAP_uc011kis.2_Silent_p.I3043I|TRRAP_uc003upr.3_Silent_p.I2760I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3072	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTTCCTATCGTGGATTGCT	0.478000														69			47		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10789453	10789453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:10789453C>T	uc001mja.3	+	13	1936	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	596					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAACAGCCATCCACACAGAGT	0.443000														103			71		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79966256	79966256	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:79966256C>T	uc004akr.3	+	52	7573	c.7313C>T	c.(7312-7314)tCc>tTc	p.S2438F	VPS13A_uc004akp.4_Missense_Mutation_p.S2438F|VPS13A_uc004akq.4_Missense_Mutation_p.S2438F|VPS13A_uc004aks.3_Missense_Mutation_p.S2399F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2438					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAGAAGATTCCCTCCCTCCT	0.393000														20			38		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075280	100075280	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:100075280A>G	uc003uva.3	-	1	1137	c.382T>C	c.(382-384)Ttg>Ctg	p.L128L	TSC22D4_uc011kjv.2_Intron|TSC22D4_uc010lgx.3_Silent_p.L128L|TSC22D4_uc003uvc.4_Silent_p.L128L	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	128					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGCTCCAACCTGGAATCC	0.692000														6			6		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92905594	92905594	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:92905594C>T	uc003umo.3	+	11	1047	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	CCDC132_uc003ump.3_Silent_p.L277L|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Silent_p.L307L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	307										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTCCAAAAGCTGCAATATAA	0.338000														26			30		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	29997826	29997826	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:29997826G>A	uc001zcr.3	-	25	5449	c.4974C>T	c.(4972-4974)atC>atT	p.I1658I	TJP1_uc010azl.3_Silent_p.I1646I|TJP1_uc001zcq.3_Silent_p.I1582I|TJP1_uc001zcs.3_Silent_p.I1578I	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1658	ZU5.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				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)		CTCCTTGAGGGATAATTATAC	0.458000														59			16		0	0	1	0	0
SRD5A1	6715	broad.mit.edu	37	5	6662995	6662995	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:6662995C>T	uc003jdw.3	+	3	819	c.629C>T	c.(628-630)gCc>gTc	p.A210V	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A163V	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	210					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTGGCTATGCCCTGGCCAGC	0.423000														33			34		0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128861129	128861129	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:128861129G>A	uc003ifp.3	-	6	740	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	MFSD8_uc011cgu.2_Missense_Mutation_p.L148F|MFSD8_uc011cgv.1_Missense_Mutation_p.L155F|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Intron	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	193					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTTTCTCCAAGGAATGTAAAA	0.289000														35			17		0	0	1	0	0
PTF1A	256297	broad.mit.edu	37	10	23482663	23482663	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:23482663G>A	uc001irp.3	+	1	815	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	272					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCTGATTATGGCCTCCCTCCC	0.512000														119			67		0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48734041	48734041	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:48734041G>A	uc010xzj.2	-	5	808	c.765C>T	c.(763-765)tcC>tcT	p.S255S	CARD8_uc002pii.4_Silent_p.S255S|CARD8_uc010xzi.1_Silent_p.S150S|CARD8_uc010els.3_Silent_p.S188S|CARD8_uc010xzk.2_Silent_p.S174S|CARD8_uc002pie.4_Silent_p.S150S|CARD8_uc002pif.4_Silent_p.S150S|CARD8_uc021uwq.1_Silent_p.S150S|CARD8_uc021uwr.1_Silent_p.S150S|CARD8_uc002pig.4_5'UTR|CARD8_uc002pih.4_Silent_p.S205S|CARD8_uc010xzl.2_Silent_p.S205S|CARD8_uc010xzm.2_Silent_p.S255S	NM_001184900	NP_001171829	Q9Y2G2	CARD8_HUMAN	Homo sapiens caspase recruitment domain family, member 8 (CARD8), transcript variant 1, mRNA.	150					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	NACHT domain binding|caspase activator activity|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TACCTTGGAGGGAGATGAAGT	0.627000														50			20		0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24911630	24911630	+	Silent	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:24911630G>T	uc001wpm.3	-	1	77	c.45C>A	c.(43-45)gcC>gcA	p.A15A	SDR39U1_uc001wpi.3_5'UTR|AK056368_uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 39U, member 1 (SDR39U1), mRNA.	0							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GCTGGGTTAGGGCTGTCCCAA	0.607000														4			3		6.4e-05	6.43751e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048867	9048867	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:9048867G>A	uc002mkp.3	-	4	32968	c.32764C>T	c.(32764-32766)Cca>Tca	p.P10922S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10924	Thr-rich.				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						GTTGGAGTTGGAATAGCAGAA	0.473000														76			59		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32051392	32051392	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:32051392G>A	uc001bta.3	+	9	1258	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	TINAGL1_uc010ogj.2_Missense_Mutation_p.G347R|TINAGL1_uc010ogk.1_Missense_Mutation_p.G378R|TINAGL1_uc021oko.1_Missense_Mutation_p.G273R	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	378					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTATACAAGGGAGGCATCTA	0.602000														8			3		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874203	36874203	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:36874203C>T	uc003cgj.3	-	20	6987	c.6739G>A	c.(6739-6741)Gaa>Aaa	p.E2247K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2247					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGGATTTCTTTGCATGCC	0.433000														30			21		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687209	159687209	+	Missense_Mutation	SNP	G	A	A	rs143447403	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:159687209G>A	uc010kjv.3	+	20	5578	c.5378G>A	c.(5377-5379)cGa>cAa	p.R1793Q		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1793						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)		ACGTGGTATCGAAAGTTCGTG	0.478000														27			20		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662432	40662432	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:40662432G>A	uc011aor.2	+	4	2409	c.2198G>A	c.(2197-2199)gGa>gAa	p.G733E	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.G733E|TNRC6B_uc003ayo.3_Missense_Mutation_p.G537E	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	733					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CAGGGGTGGGGAGGTGGACGC	0.502000														7			4		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848493	166848493	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:166848493G>A	uc002udo.4	-	27	5519	c.5292C>T	c.(5290-5292)ttC>ttT	p.F1764F	SCN1A_uc010fpk.3_Silent_p.F1736F|SCN1A_uc021vsb.1_Silent_p.F1753F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1764						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGACAAAAAAGAAAATTCCAA	0.453000														82			44		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30507826	30507826	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:30507826C>T	uc002dyi.4	+	14	1947	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	ITGAL_uc002dyj.4_Missense_Mutation_p.L508F|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	591					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGTGAAGGACCTTGAAGGGGA	0.557000														33			17		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50208484	50208484	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:50208484G>A	uc010eng.3	+	9	1209	c.893G>A	c.(892-894)gGa>gAa	p.G298E	CPT1C_uc002ppl.4_Missense_Mutation_p.G264E|CPT1C_uc002ppi.3_Missense_Mutation_p.G215E|CPT1C_uc002ppk.3_Missense_Mutation_p.G287E|CPT1C_uc010enh.3_Missense_Mutation_p.G298E|CPT1C_uc002ppj.3_Missense_Mutation_p.G298E|CPT1C_uc010ybc.1_Missense_Mutation_p.G169E|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	298					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTGCTGATGGGAATGCGCCCC	0.587000														75			34		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170904	100170904	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:100170904G>A	uc002taf.3	-	22	3647	c.3503C>T	c.(3502-3504)tCc>tTc	p.S1168F	AFF3_uc002tag.3_Missense_Mutation_p.S1143F	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1143					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L1167L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGTCGACGGGGACAGGGCGCT	0.647000														35			24		0	0	1	0	0
APLNR	187	broad.mit.edu	37	11	57003960	57003960	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:57003960C>T	uc001njo.3	-	0	968	c.519G>A	c.(517-519)ttG>ttA	p.L173L	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	173						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTGTTCTCCAAGTCCCCGG	0.642000														19			12		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148711386	148711386	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:148711386G>A	uc003qme.1	+	1	748	c.273G>A	c.(271-273)caG>caA	p.Q91Q		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	91							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GGGTTTCCCAGGACCTGGAAG	0.537000														12			10		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47084151	47084151	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:47084151G>C	uc003cqv.3	-	17	7425	c.7339C>G	c.(7339-7341)Ccc>Gcc	p.P2447A	SETD2_uc003cqs.3_Missense_Mutation_p.P2380A|SETD2_uc003cqr.3_5'UTR	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.P2380fs(2)|p.P1877fs(2)|p.S1879fs*47(1)|p.S2382fs*47(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGAGAGGGGGGCGGCAGATCC	0.428000			"""N, F, S, Mis"""		clear cell renal carcinoma									61			19		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36168987	36168987	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:36168987C>T	uc003olv.4	+	1	1112	c.888C>T	c.(886-888)atC>atT	p.I296I	BRPF3_uc010jwb.3_Silent_p.I296I|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.I296I	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	296					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCATCTGGATCCCTGAAGTCT	0.547000														24			16		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16769331	16769331	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:16769331G>C	uc010exm.2	-	1	205	c.57C>G	c.(55-57)ttC>ttG	p.F19L	FAM49A_uc002rck.2_Missense_Mutation_p.F19L	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	19						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAAATCCAGGAAAAAGTGTG	0.318000														13			4		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980743	40980743	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:40980743C>T	uc002xkg.3	-	9	1927	c.1743G>A	c.(1741-1743)cgG>cgA	p.R581R	PTPRT_uc010ggj.3_Silent_p.R581R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	581	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)				TGGTGGCAATCCGAGTGGTGA	0.478000														29			14		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958028	49958028	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:49958028G>A	uc004dow.1	-	4	1460	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	AKAP4_uc004dou.1_Silent_p.L437L|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.L268L	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	446					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCATATGACAGACTCTGAGAC	0.458000														45			25		0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53049957	53049957	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:53049957C>T	uc002aci.1	-	1	1321	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	398					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		ATGTAGAGTTCGACGCTGGAC	0.463000														106			51		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58097893	58097893	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:58097893C>G	uc003djj.2	+	17	2758	c.2593C>G	c.(2593-2595)Ccg>Gcg	p.P865A	FLNB_uc010hne.2_Missense_Mutation_p.P865A|FLNB_uc003djk.2_Missense_Mutation_p.P865A|FLNB_uc010hnf.2_Missense_Mutation_p.P865A|FLNB_uc003djl.2_Missense_Mutation_p.P696A|FLNB_uc003djm.2_Missense_Mutation_p.P696A	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	865					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAATGGGAAACCGACCCACTT	0.512000														69			37		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846635	7846635	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:7846635C>T	uc010rbg.2	-	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTTAATCTCCTTGTTCCTGA	0.393000														21			12		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13870977	13870977	+	Missense_Mutation	SNP	G	A	A	rs149609746		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:13870977G>A	uc003jfd.2	-	23	3775	c.3733C>T	c.(3733-3735)Cgt>Tgt	p.R1245C		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1245	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAATTGGACGATTTAGTTTC	0.393000									Kartagener syndrome					26			7		0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521617	99521617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:99521617G>A	uc004awn.1	-	5	1684	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*	ZNF510_uc004awo.1_Nonsense_Mutation_p.Q499*	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGGACTTCTGAACAAAAGTT	0.413000														15			36		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143992	11143993	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:11143992_11143993CC>TT	uc010dxp.3	+	26	3933_3934	c.3573_3574CC>TT	c.(3571-3576)caccgc>caTTgc	p.R1192C	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1192C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1192C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1192C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1192C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412C|SMARCA4_uc002mqh.4_Missense_Mutation_p.R315C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1192C(2)|p.H1191R(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCGAGCCCACCGCATCGGGCA	0.609000			"""F, N, Mis"""		NSCLC									70			54		0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65350557	65350557	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:65350557G>A	uc003dmn.3	-	18	3787	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	MAGI1_uc003dmm.3_Silent_p.T1115T|MAGI1_uc003dmo.3_Silent_p.T1116T|MAGI1_uc003dmp.3_Silent_p.T1020T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1116					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)		GCTGAGAAGGGGTGTGTGTGG	0.478000														43			26		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086453	55086453	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:55086453C>T	uc010ern.3	+	4	1077	c.608C>T	c.(607-609)cCc>cTc	p.P203L	LILRA1_uc002qgg.4_Missense_Mutation_p.P203L|LILRA1_uc002qgf.3_Missense_Mutation_p.P203L|LILRA1_uc010yfe.1_Missense_Mutation_p.P203L|LILRA1_uc010yff.1_Missense_Mutation_p.P191L|LILRA1_uc010ero.3_Missense_Mutation_p.P191L|LILRA1_uc010yfg.1_Missense_Mutation_p.P203L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	205	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)		TCGAACTCTCCCTATGTGTGG	0.582000														92			32		0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101157299	101157299	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:101157299T>C	uc003yjd.3	-	0	801	c.65A>G	c.(64-66)aAg>aGg	p.K22R	FBXO43_uc003yje.3_5'UTR|FBXO43_uc010mbp.2_Missense_Mutation_p.K22R	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	22					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTGAGCTCTTAGATGTCAA	0.338000														9			4		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48601045	48601045	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:48601045G>A	uc010wmr.2	+	11	1826	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	518					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGGGAGTTTCGAACCCATCCT	0.478000														20			11		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60907443	60907443	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:60907443C>T	uc002ycq.3	-	27	3604	c.3537G>A	c.(3535-3537)caG>caA	p.Q1179Q	LAMA5_uc021wfw.1_Silent_p.Q1179Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1179	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGCGTGCCTGTTCGGCTG	0.617000														26			25		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103232983	103232983	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:103232983G>A	uc001tjq.1	-	12	1802	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	443					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CACTGCAAAGGATTCCAATTT	0.403000														20			9		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1254977	1254977	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:1254977C>T	uc002lrp.3	+	5	1288	c.773C>T	c.(772-774)cCt>cTt	p.P258L		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	258						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCCAGCCCTGCCCCCCGC	0.652000														65			56		0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33272179	33272179	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:33272179G>A	uc001bvy.1	-	3	1202	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_003680	NP_003671	P54577	SYYC_HUMAN	Homo sapiens tyrosyl-tRNA synthetase (YARS), mRNA.	138					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GTGTGACCACGGAGGAGAGTC	0.532000														42			27		0	0	1	0	0
RFC3	5983	broad.mit.edu	37	13	34410402	34410403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:34410402_34410403GG>AA	uc001uuz.3	+	8	1151_1152	c.1041_1042GG>AA	c.(1039-1044)atggag>atAAag	p.347_348ME>IK	RFC3_uc001uva.3_Intron	NM_002915	NP_002906	P40938	RFC3_HUMAN	Homo sapiens replication factor C (activator 1) 3, 38kDa (RFC3), transcript variant 1, mRNA.	347					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|response to organophosphorus|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AGAAGTTCATGGAGGATGGATT	0.396000														12			94		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31887785	31887785	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:31887785C>T	uc002wyw.1	+	7	903	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	BPIFB1_uc002wyx.1_5'Flank	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	248						extracellular space	lipid binding										TCAGCTCTACCTGGGGGTGAG	0.537000											OREG0025869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			20		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78947495	78947495	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:78947495G>A	uc004akc.2	+	32	5174	c.4636G>A	c.(4636-4638)Gga>Aga	p.G1546R		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	714					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTCCAGCTAGGAAAAGAGTG	0.537000														0			10		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593259	125593259	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:125593259G>A	uc010inw.3	-	3	2211	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ANKRD50_uc011cgo.2_Silent_p.I212I	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	391								p.D390G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTTTGGAGAGGATATCTAACT	0.393000														36			43		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201191880	201191880	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:201191880C>T	uc001gwc.3	+	19	10345	c.10215C>T	c.(10213-10215)ttC>ttT	p.F3405F	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTCCCAAGTTCCTCGTGGACT	0.602000											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			13		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552978	140552978	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140552978G>A	uc003lit.3	+	0	736	c.562G>A	c.(562-564)Ggg>Agg	p.G188R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	188	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGCGGGGAGGGGAATATCTA	0.493000														12			24		0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	78920	78920	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrGL000219.1:78920A>G	uc022brb.1	-	5	579	c.266T>C	c.(265-267)cTt>cCt	p.L89P	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ACTTATTTTAAGTTTGTGCTC	0.294000														52			3		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883942	228883943	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:228883942_228883943CC>TT	uc002vpq.2	-	6	1674_1675	c.1627_1628GG>AA	c.(1627-1629)gga>AAa	p.G543K	SPHKAP_uc002vpp.2_Missense_Mutation_p.G543K|SPHKAP_uc010zlx.1_Missense_Mutation_p.G543K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	543						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCCTTGAGTCCTTGGGGTGCT	0.525000														46			22		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672707	186672707	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:186672707C>T	uc002upl.3	+	16	18941	c.18941C>T	c.(18940-18942)tCc>tTc	p.S6314F	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATTTATCTCCAAAAGTAAG	0.308000														14			9		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	247436	247436	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:247436G>A	uc001qhw.2	+	3	907	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	IQSEC3_uc001qhu.1_5'UTR|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	303					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTTGCAGATTGAAATGCTAGA	0.602000														19			13		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62415997	62415997	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:62415997G>A	uc003xuj.3	-	24	2467	c.2198C>T	c.(2197-2199)tCt>tTt	p.S733F	ASPH_uc011leg.2_Missense_Mutation_p.S704F	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	733					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAGCCGGAAAGATGAGGCATC	0.507000														17			7		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:4920518C>T	uc001qng.3	+	0	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_uc021qtr.1_Silent_p.I437I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)				34			22		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466686	50466686	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:50466686G>A	uc001vdk.2	+	0	2142	c.1960G>A	c.(1960-1962)Gtg>Atg	p.V654M						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GGATGGGTCAGTGCATTCAGA	0.393000														151			6		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43323270	43323271	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:43323270_43323271GG>AA	uc002iin.3	+	23	3220_3221	c.3020_3021GG>AA	c.(3019-3021)tgg>tAA	p.W1007*	FMNL1_uc002iiq.3_Nonsense_Mutation_p.W585*|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Nonsense_Mutation_p.W334*|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	1007	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GTGGAACAGTGGAAAAAAGAAG	0.629000														12			8		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8657671	8657671	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:8657671G>C	uc002mkj.1	-	12	1837	c.1563C>G	c.(1561-1563)tgC>tgG	p.C521W	ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.C153W	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	521	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L520L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGTGCGTCTGGCACAGCGTGC	0.711000														21			16		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869013	95869014	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:95869013_95869014CC>TT	uc003yhb.3	+	14	1887_1888	c.1761_1762CC>TT	c.(1759-1764)tcccat>tcTTat	p.H588Y	INTS8_uc003yha.1_Missense_Mutation_p.H588Y|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.H415Y	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	588					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGGACTTTTCCCATGCTAAACA	0.426000														90			40		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874421	36874421	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:36874421G>A	uc003cgj.3	-	20	6769	c.6521C>T	c.(6520-6522)gCc>gTc	p.A2174V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2174					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TAAACACTTGGCTTCACAACG	0.423000														5			10		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69351797	69351797	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:69351797C>T	uc010lyz.3	+	1	682	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	C8orf34_uc010lyx.2_Missense_Mutation_p.L131F|C8orf34_uc010lyy.2_Missense_Mutation_p.L131F|C8orf34_uc003xyb.3_Missense_Mutation_p.L20F	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	45					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CATTGACCATCTTCAGTCTAA	0.388000														36			22		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98844724	98844724	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:98844724G>C	uc002syo.3	+	14	2343	c.2079G>C	c.(2077-2079)aaG>aaC	p.K693N	VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.K212N|VWA3B_uc002sym.3_Missense_Mutation_p.K693N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.K350N|VWA3B_uc002syp.1_Missense_Mutation_p.K85N|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Missense_Mutation_p.K10N	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	693										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATCTGGAGAAGATGCAAGACC	0.438000														19			18		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469011	86469011	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:86469011C>T	uc003uid.3	+	3	3280	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I599I|GRM3_uc010leh.3_Silent_p.I319I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	727					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAACAGTCATCCTAAAATGCA	0.493000														36			13		0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129924982	129924982	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:129924982G>A	uc003igp.2	-	5	846	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	SCLT1_uc003igq.2_Missense_Mutation_p.P114S|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	114						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GTGCCCAGGGGAAAGGCCTCC	0.388000														25			24		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955796	107955796	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:107955796C>T	uc003prx.3	+	5	2252	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	583							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)		CACTCCCTGTCCCCCCGGGAC	0.731000														7			12		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4542748	4542748	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:4542748A>T	uc002fyh.3	-	1	339	c.314T>A	c.(313-315)gTc>gAc	p.V105D	ALOX15_uc010vsd.2_Missense_Mutation_p.V66D|ALOX15_uc010vse.2_Missense_Mutation_p.V127D	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	105	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAGGCTCAGGACGCCGTTGCC	0.662000														28			14		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72285743	72285743	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:72285743G>A	uc002jkf.3	+	4	588	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	DNAI2_uc002jkg.3_Missense_Mutation_p.E160K|DNAI2_uc010dfp.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	160					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGACCCCCAGGAAATCAAGAG	0.552000									Kartagener syndrome					33			8		0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182356320	182356320	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:182356320C>T	uc001gpa.2	-	2	517	c.274G>A	c.(274-276)Gac>Aac	p.D92N	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D92N|GLUL_uc001gpc.2_Missense_Mutation_p.D92N|GLUL_uc001gpd.2_Missense_Mutation_p.D92N	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	92					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TTGTTAGGGTCCTTACGGAAG	0.478000														37			28		0	0	1	0	0
TXNL4A	10907	broad.mit.edu	37	18	77733800	77733800	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:77733800G>A	uc002lnp.3	-	2	454	c.314C>T	c.(313-315)gCc>gTc	p.A105V	TXNL4A_uc002lnr.3_3'UTR|TXNL4A_uc010drf.3_Non-coding_Transcript|TXNL4A_uc010drg.3_Missense_Mutation_p.A34V	NM_006701	NP_006692	P83876	TXN4A_HUMAN	Homo sapiens thioredoxin-like 4A (TXNL4A), mRNA.	105					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		GTCCTCCATGGCCCAGTTAAT	0.547000														55			33		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384180	25384180	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:25384180C>T	uc002rfy.1	-	3	837	c.574G>A	c.(574-576)Gac>Aac	p.D192N	POMC_uc002rfz.1_Missense_Mutation_p.D192N|POMC_uc002rga.1_Missense_Mutation_p.D192N	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	192					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GCAGGGCCGTCGGGGCCATCT	0.701000														13			8		0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790846	19790846	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:19790846C>T	uc002nni.2	+	3	1158	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	ZNF101_uc010ecg.2_Missense_Mutation_p.P230S|ZNF101_uc002nnj.2_Missense_Mutation_p.P230S	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTTCAATTATCCCAGTTGTTT	0.408000														29			33		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134340309	134340309	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:134340309C>T	uc004can.4	+	10	1619	c.1564C>T	c.(1564-1566)Ctg>Ttg	p.L522L	PRRC2B_uc010mzj.1_Silent_p.L105L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	522							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGAGGAGAGGCTGGCCGCCTG	0.632000														4			12		0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968048	102968048	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:102968048C>T	uc002tbu.1	+	10	1609	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	446	TIR.				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						GGCACATTTTCATCCTGACCC	0.458000														15			19		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189590656	189590656	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:189590656C>T	uc003fry.2	+	9	1310	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	TP63_uc003frx.2_Silent_p.G407G|TP63_uc003frz.2_Silent_p.G407G|TP63_uc010hzc.1_Silent_p.G407G|TP63_uc003fsa.2_Silent_p.G313G|TP63_uc003fsb.2_Silent_p.G313G|TP63_uc003fsc.2_Silent_p.G313G|TP63_uc003fsd.2_Silent_p.G313G|TP63_uc021xir.1_Silent_p.G313G|TP63_uc010hzd.1_Silent_p.G228G	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	407	Oligomerization.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGGTGAGGGGCCGTGAGACTT	0.443000										HNSCC(45;0.13)				15			16		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986306	61986306	+	Silent	SNP	C	T	T	rs144379684		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:61986306C>T	uc001vid.4	-	1	2290	c.1926G>A	c.(1924-1926)aaG>aaA	p.K642K	PCDH20_uc010thj.2_Silent_p.K642K	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	615	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G642*(1)|p.A641S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGCTGAAGTCCTTGTTGATAA	0.478000														11			59		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563868	46563868	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:46563868G>A	uc001ncv.2	-	7	1743	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	AMBRA1_uc010rgt.1_Missense_Mutation_p.R133C|AMBRA1_uc009ylc.1_Missense_Mutation_p.R567C|AMBRA1_uc001ncu.1_Missense_Mutation_p.R477C|AMBRA1_uc010rgu.1_Missense_Mutation_p.R567C|AMBRA1_uc001ncw.2_Missense_Mutation_p.R477C|AMBRA1_uc001ncx.2_Missense_Mutation_p.R567C	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	500					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCACGACAGCGATTCAGGTGG	0.552000														48			22		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261715	39261715	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:39261715C>T	uc010wfp.2	+	0	75	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	25	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						AGACCTGCTGCCGCCCCAGCT	0.642000														18			17		0	0	1	0	0
PRDX6	9588	broad.mit.edu	37	1	173456933	173456933	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:173456933C>T	uc001giy.1	+	4	657	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	202					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AAAAACTTTTCCCGAAAGGAG	0.468000														29			12		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140610	22140610	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:22140610C>T	uc003xbn.2	+	4	637	c.489C>T	c.(487-489)atC>atT	p.I163I	PIWIL2_uc011kzf.1_Silent_p.I163I|PIWIL2_uc010ltv.2_Silent_p.I163I	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	163					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CAGGTGGTATCAGCAGAGAAG	0.557000														14			7		0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80391593	80391593	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:80391593C>T	uc002kev.4	+	4	758	c.342C>T	c.(340-342)acC>acT	p.T114T	HEXDC_uc002kew.3_Silent_p.T114T|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	114					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCCCTGCACCCTGAACCCCC	0.672000														76			16		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269323	53269323	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:53269323G>A	uc002qab.4	-	2	1972	c.1686C>T	c.(1684-1686)acC>acT	p.T562T	ZNF600_uc021uyz.1_Silent_p.T562T	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T562T(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGTGACTGAAGGTCTTGCCAC	0.438000														90			106		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83667033	83667033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:83667033G>A	uc003pjp.2	-	8	1255	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	UBE3D_uc011dyx.1_Non-coding_Transcript	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	383	HECT-like.					cytoplasm	ligase activity										TTGCTCACCTGAAAGGAATTC	0.463000														25			15		0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42452071	42452071	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:42452071G>A	uc002igt.1	-	27	2931	c.2899C>T	c.(2899-2901)Ccc>Tcc	p.P967S	ITGA2B_uc002igu.1_3'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	967					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCGCATAGGGGAGGGAGGAC	0.622000														19			21		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18241859	18241859	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:18241859G>A	uc001rdq.3	-	2	281	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	29	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						ATTCTCCAATGAATCGCTTAG	0.333000														31			17		0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127298867	127298867	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:127298867G>A	uc003ejn.2	-	1	456	c.123C>T	c.(121-123)tcC>tcT	p.S41S	TPRA1_uc003ejl.2_Silent_p.S41S|TPRA1_uc010hsk.2_Silent_p.S41S|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	41					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TGCCTCACCTGGAGGTGCCAA	0.612000														40			24		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71444132	71444132	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:71444132A>G	uc001xmo.2	+	5	1524	c.1078A>G	c.(1078-1080)Aaa>Gaa	p.K360E	PCNX_uc001xmn.4_Missense_Mutation_p.K360E|PCNX_uc010are.1_Missense_Mutation_p.K360E	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	360						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGGAAGAGCAAACCTTTGAA	0.478000														23			21		0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32792652	32792652	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:32792652C>T	uc001bvb.1	+	4	531	c.468C>T	c.(466-468)atC>atT	p.I156I	HDAC1_uc010ohd.1_Silent_p.I156I|HDAC1_uc010ohe.1_Silent_p.I93I|HDAC1_uc010ohf.1_Silent_p.I127I|HDAC1_uc001bvc.1_5'Flank	NM_004964	NP_004955	Q13547	HDAC1_HUMAN	Homo sapiens histone deacetylase 1 (HDAC1), mRNA.	156	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	NuRD complex|Sin3 complex|cytosol	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.I156I(2)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TCAATGATATCGTCTTGGCCA	0.532000														33			23		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000														8			10		0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4837429	4837429	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:4837429G>A	uc021toc.1	-	0		c.428C>T			GP1BA_uc021tnz.1_Silent_p.G510G|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Silent_p.G510G			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TGCTCCAAGGGCATTTGGAGA	0.502000														40			26		0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26692740	26692740	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:26692740C>T	uc001mra.2	-	14	2079	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	589					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTTCTGAGTCCGTTCTGTAA	0.438000														45			12		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775270	128775270	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:128775270G>A	uc010fmd.2	-	2	542	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SAP130_uc002tpp.2_Missense_Mutation_p.S137L|SAP130_uc002tpq.1_Missense_Mutation_p.S111L	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	137	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAGTCCCTCCGAAAATGAAAG	0.488000														34			21		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103470339	103470339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:103470339G>A	uc001ymi.1	-	3	605	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	125	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGCACATCGCGCTCCTCTCGG	0.627000														11			8		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356172	22356172	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:22356172C>T	uc021rph.1	+	0	136	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Silent_p.L12L|AV2S1A1_uc021rpi.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		ACTAGTGATCCTGTGGCTTCA	0.373000														7			9		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96030984	96030984	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:96030984C>T	uc004ati.1	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L	WNK2_uc011lud.1_Missense_Mutation_p.S1330L|WNK2_uc004atj.3_Missense_Mutation_p.S1330L|WNK2_uc004atk.3_Missense_Mutation_p.S967L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1330					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.S1316L(1)|p.S1330L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGAATCTTCGCCCCCACTT	0.617000														4			13		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196230	87196230	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:87196230G>A	uc003uiz.2	-	6	894	c.401C>T	c.(400-402)tCa>tTa	p.S134L	ABCB1_uc011khc.2_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	134	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCACCAAAATGAAACCTGAAT	0.418000														27			14		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429310	135429310	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:135429310C>T	uc004ezu.1	+	5	3736	c.3445C>T	c.(3445-3447)Ccc>Tcc	p.P1149S	GPR112_uc010nsb.1_Missense_Mutation_p.P944S|GPR112_uc010nsc.1_Missense_Mutation_p.P916S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1149					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCAAAACCTCCCCCTGACAA	0.483000														9			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106714636	106714636	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:106714636C>T	uc021ser.1	-	1006		c.23220G>A								Parts of antibodies, mostly variable regions.																		TACCAAGCCTCCCCCAGACTC	0.567000														44			32		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63176257	63176257	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:63176257G>A	uc001nww.3	+	8	1775	c.1507G>A	c.(1507-1509)Gga>Aga	p.G503R	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	503					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GATCATCTATGGAGTCTTCCC	0.488000														32			13		0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409022	17409022	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:17409022C>T	uc001mna.3	-	0	1185	c.617G>A	c.(616-618)cGc>cAc	p.R206H	KCNJ11_uc001mnb.4_Missense_Mutation_p.R119H	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	119						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CATGCTCTTGCGGAGGTCACC	0.647000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			5		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29976244	29976244	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:29976244C>T	uc011kaa.2	-	5	942	c.893G>A	c.(892-894)gGa>gAa	p.G298E	SCRN1_uc011jzy.2_Missense_Mutation_p.G210E|SCRN1_uc003tak.3_Missense_Mutation_p.G278E|SCRN1_uc011jzz.2_Missense_Mutation_p.G278E|SCRN1_uc011jzw.2_Missense_Mutation_p.G145E|SCRN1_uc010kvp.3_Missense_Mutation_p.G278E|SCRN1_uc011jzx.2_Missense_Mutation_p.G101E	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	278				P -> H (in Ref. 7; AAH40492).	exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACAGACACTCCACTGGCTGT	0.522000														44			26		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012289	55012289	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:55012289G>A	uc002xxp.2	+	2	331	c.106G>A	c.(106-108)Gac>Aac	p.D36N	CASS4_uc002xxq.4_Missense_Mutation_p.D36N|CASS4_uc010zze.1_Missense_Mutation_p.D36N|CASS4_uc002xxr.2_Missense_Mutation_p.D36N|CASS4_uc010gio.2_Missense_Mutation_p.D36N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	36	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGCAGAGGGGACATCCTGAC	0.592000														41			20		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345478	28345478	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:28345478C>T	uc001iua.1	-	17	1886	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.L494L|MPP7_uc009xla.2_Silent_p.L494L|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	494	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGTTTCTCTCAAACGCTCTA	0.378000														58			28		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25270478	25270478	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:25270478G>A	uc003abg.2	+	12	1545	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.G463E|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	463						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GTGGCCAGAGGGAGTCAGTGG	0.652000														19			5		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31393192	31393192	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:31393192G>A	uc002wyc.3	+	20	2601	c.2280G>A	c.(2278-2280)ttG>ttA	p.L760L	DNMT3B_uc002wyd.3_Silent_p.L740L|DNMT3B_uc002wye.3_Intron|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Intron|DNMT3B_uc002wyf.3_Silent_p.L752L|DNMT3B_uc002wyg.3_Intron|DNMT3B_uc010geg.3_Silent_p.L59L|DNMT3B_uc010geh.3_Intron	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	760					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACTGCTTGGAATACAATA	0.493000														27			13		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794885	229794885	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:229794885G>T	uc001hts.1	+	9	4552	c.4416G>T	c.(4414-4416)gaG>gaT	p.E1472D	URB2_uc009xfd.1_Missense_Mutation_p.E1472D	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1472						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						TGCTGCAGGAGGGCATTTACC	0.537000														76			43		1.97e-11	2.00371e-11	1	1	0
HRNR	388697	broad.mit.edu	37	1	152192141	152192141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152192141C>T	uc001ezt.1	-	2	2040	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	655					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCAGATCCAGAGCCCTG	0.582000														151			61		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728627	51728627	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:51728627G>A	uc002pwa.2	+	1	231	c.191G>A	c.(190-192)gGa>gAa	p.G64E	CD33_uc010eos.1_Missense_Mutation_p.G64E|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	64	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.E63K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TTCCGGGAAGGAGCCATTATA	0.537000														38			52		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41243906	41243906	+	Missense_Mutation	SNP	C	A	A	rs80357805		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:41243906C>A	uc002icq.3	-	9	3874	c.3642G>T	c.(3640-3642)gaG>gaT	p.E1214D	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.E1143D|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.E1167D|BRCA1_uc002ict.3_Missense_Mutation_p.E1214D|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.E1214D|BRCA1_uc002ide.1_Missense_Mutation_p.E1045D|BRCA1_uc010cyy.1_Missense_Mutation_p.E1214D|BRCA1_uc010whs.1_Missense_Mutation_p.E1214D|BRCA1_uc010cyz.2_Missense_Mutation_p.E1167D|BRCA1_uc010cza.2_Missense_Mutation_p.E1188D|BRCA1_uc010wht.1_Missense_Mutation_p.E918D	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1214					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGATAAGTTCTCTTCTGAGG	0.453000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				23			16		4.7546e-09	4.81308e-09	1	1	0
MYH6	4624	broad.mit.edu	37	14	23861779	23861779	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:23861779C>T	uc001wjv.3	-	24	3405	c.3334G>A	c.(3334-3336)Gaa>Aaa	p.E1112K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1112					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	ATP binding|actin binding|actin-dependent ATPase activity|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)		ACCTGGTTTTCCTTCAGTTTC	0.478000														85			62		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036883	133036883	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:133036883C>T	uc003ytg.2	-	12	1279	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	OC90_uc011lix.1_Missense_Mutation_p.D427N	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	443	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGCAGGCTGTCTTCACAGGCT	0.647000														7			14		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606653	55606653	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:55606653C>T	uc010rio.2	+	0	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCAGAAACTCTGTGCCATGC	0.453000														31			26		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42176187	42176187	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:42176187C>T	uc003xow.2	+	12	1544	c.1358C>T	c.(1357-1359)gCc>gTc	p.A453V	IKBKB_uc010lxh.2_Missense_Mutation_p.A348V|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Missense_Mutation_p.A174V|IKBKB_uc010lxj.2_Missense_Mutation_p.A230V|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.A451V|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.A394V	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	453					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GGACAGCGAGCCGCCATGTAG	0.537000														13			17		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80051581	80051581	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:80051581G>A	uc002kdu.3	-	3	464	c.347C>T	c.(346-348)aCc>aTc	p.T116I		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	116	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCCTCCGAGGTCTCAGAGCC	0.637000														74			31		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170169683	170169683	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:170169683A>G	uc003qxg.1	+	11	1140	c.1107A>G	c.(1105-1107)agA>agG	p.R369R	C6orf70_uc011ehb.1_Silent_p.R243R|C6orf70_uc003qxh.1_Silent_p.R369R|C6orf70_uc010kky.1_Silent_p.R243R|C6orf70_uc003qxi.1_Silent_p.R17R	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	369						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CCCGCATAAGAGATCATTTAA	0.393000														15			9		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94137913	94137913	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:94137913G>A	uc011cdt.2	+	5	1072	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	GRID2_uc010ikx.3_Missense_Mutation_p.E272K|GRID2_uc011cdu.2_Missense_Mutation_p.E177K|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	272					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGACGTACAGGAACTTGTAAG	0.388000														34			28		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90428729	90428729	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:90428729G>A	uc003pnn.1	-	41	6194	c.6078C>T	c.(6076-6078)tcC>tcT	p.S2026S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2026					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCTCCCACGGGAAAGGACTG	0.512000														25			18		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116756962	116756962	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:116756962G>A	uc011ebg.2	+	5	1487	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	DSE_uc003pws.3_Missense_Mutation_p.R444K|DSE_uc003pwt.3_Missense_Mutation_p.R444K|DSE_uc003pwu.3_Missense_Mutation_p.R111K	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	444					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.N463fs*22(1)		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)		AAAGGATGGAGAAATTTTAAT	0.408000														17			15		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46234779	46234780	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:46234779_46234780GG>AA	uc002rut.3	+	8	1439_1440	c.1242_1243GG>AA	c.(1240-1245)ttgggc>ttAAgc	p.G415S		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	415	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			TCAAGGTGTTGGGCAAAGGCAG	0.540000														16			10		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64489551	64489551	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:64489551G>A	uc001xgl.3	+	37	5837	c.5607G>A	c.(5605-5607)aaG>aaA	p.K1869K	SYNE2_uc001xgm.3_Silent_p.K1869K|SYNE2_uc021ruh.1_Silent_p.K1869K	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1869					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAAAAAAGAGTGTGGAAC	0.308000														11			5		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119745861	119745862	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:119745861_119745862CC>TT	uc003ici.4	-	2	433_434	c.161_162GG>AA	c.(160-162)agg>aAA	p.R54K	SEC24D_uc003icj.4_Missense_Mutation_p.R54K|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	54	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCAACATTCCCCTAGTGGCGGT	0.545000														49			28		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42455922	42455922	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:42455922G>A	uc001zpd.3	-	20	2215	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	VPS39_uc001zpc.3_Silent_p.L677L|VPS39_uc001zpb.3_Silent_p.L23L	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	688					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTTCTTCTAAGAGGCCTAGGA	0.498000														7			3		0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24718839	24718839	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:24718839T>C	uc003nel.3	-	0	565	c.58A>G	c.(58-60)Aga>Gga	p.R20G		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	20						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTTTCTTTCTAAGCTGAGCA	0.383000														31			17		0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37282857	37282857	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:37282857G>A	uc001caz.2	-	12	2030	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	GRIK3_uc001cba.1_Missense_Mutation_p.A632V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	632					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTGGACAGGGCTTTGGGCAT	0.562000														16			19		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:28737418C>T	uc002kwn.3	-	2	529	c.267G>A	c.(265-267)agG>agA	p.R89R	DSC1_uc002kwm.3_Silent_p.R89R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000														13			10		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112956	108112956	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:108112956G>A	uc003dxa.1	-	36	5298	c.5241C>T	c.(5239-5241)gcC>gcT	p.A1747A		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1747						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCTGCATCCGGGCAACATCAG	0.488000														32			30		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185427	56185427	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:56185427G>A	uc010rji.2	-	0	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	94					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)					CACAAGCATGGAAAGGAATGG	0.463000														7			9		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109159485	109159485	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:109159485T>G	uc003kou.1	+	15	3476	c.2513T>G	c.(2512-2514)gTg>gGg	p.V838G		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	838					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TATTCGGAAGTGACTTGCTTT	0.338000														31			24		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221114	8221114	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:8221114G>A	uc003gkv.4	+	8	1070	c.969G>A	c.(967-969)gaG>gaA	p.E323E	SH3TC1_uc003gkw.4_Silent_p.E247E|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	323	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCCCGAAGAGATGACCTTCC	0.682000														34			28		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544091	53544091	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:53544091C>T	uc001cuv.3	+	7	1221	c.1053C>T	c.(1051-1053)gtC>gtT	p.V351V	PODN_uc010onr.2_Silent_p.V332V|PODN_uc010ons.2_Silent_p.V209V|PODN_uc001cuw.3_Silent_p.V332V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	303					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTCTCGGGTCCCAGCTGGGC	0.627000														44			15		0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57389908	57389908	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:57389908G>T	uc003hby.1	+	3	686	c.238G>T	c.(238-240)Gca>Tca	p.A80S		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	144							GTP binding	p.E80*(1)		lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TGAAGCTTTGGCATTATCTGA	0.418000														9			8		1.12685e-05	1.13641e-05	1	1	0
SLC39A4	55630	broad.mit.edu	37	8	145641348	145641348	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:145641348G>A	uc003zcq.3	-	1	420	c.320C>T	c.(319-321)cCc>cTc	p.P107L	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Missense_Mutation_p.P82L	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	107						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTGCCCTCGGGGTTGCTGAG	0.736000														4			14		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240016726	240016726	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:240016726G>A	uc002vyk.4	-	16	3037	c.2245C>T	c.(2245-2247)Ctc>Ttc	p.L749F	HDAC4_uc010fyz.1_Missense_Mutation_p.L744F|HDAC4_uc010zoa.1_Missense_Mutation_p.L749F|HDAC4_uc010fza.2_Missense_Mutation_p.L754F|HDAC4_uc010fyy.3_Missense_Mutation_p.L706F|HDAC4_uc010znz.1_Missense_Mutation_p.L632F	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	749	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCGCAAGGGAGCCGGACGAAC	0.602000														12			29		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116356774	116356775	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:116356774_116356775CC>TT	uc004bhq.3	+	22	3354_3355	c.3145_3146CC>TT	c.(3145-3147)ccc>TTc	p.P1049F	RGS3_uc004bhs.3_Missense_Mutation_p.P939F|RGS3_uc004bht.3_Missense_Mutation_p.P768F|RGS3_uc010muy.3_Missense_Mutation_p.P442F|RGS3_uc004bhv.3_Missense_Mutation_p.P370F|RGS3_uc004bhw.3_Missense_Mutation_p.P19F|RGS3_uc011lxh.2_Missense_Mutation_p.P370F|RGS3_uc004bhx.3_Missense_Mutation_p.P370F|RGS3_uc004bhz.3_Missense_Mutation_p.P391F|RGS3_uc004bia.3_Missense_Mutation_p.P162F	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1049					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGAGCCCCTCCCGCGGGCAAG	0.584000														14			19		0	0	1	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016405	22016405	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:22016405C>T	uc010tzk.1	-	0	474	c.312G>A	c.(310-312)agG>agA	p.R104R						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		GCTGAATCTTCCTATTTGCAA	0.378000														57			8		0	0	1	0	0
RANBP1	5902	broad.mit.edu	37	22	20114499	20114499	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:20114499C>T	uc002zro.1	+	5	679	c.530C>T	c.(529-531)gCc>gTc	p.A177V	RANBP1_uc002zrp.3_Missense_Mutation_p.A176V	NM_002882	NP_002873	P43487	RANG_HUMAN	Homo sapiens RAN binding protein 1 (RANBP1), mRNA.	177					intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					AATGATCATGCCGAAAAAGTG	0.473000														27			22		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885091	2885092	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:2885091_2885092CC>TT	uc002kln.3	+	2	546_547	c.387_388CC>TT	c.(385-390)ctccgc>ctTTgc	p.R130C		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	130					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGAAGACCCTCCGCCCCACGCC	0.515000														28			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580232	82580232	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:82580232C>T	uc003uhx.2	-	5	9961	c.9672G>A	c.(9670-9672)gaG>gaA	p.E3224E	PCLO_uc003uhv.2_Silent_p.E3224E|PCLO_uc010lec.3_Silent_p.E189E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3155	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTAATTTTCTCCAGTTCCA	0.443000														47			16		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175740715	175740715	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:175740715G>A	uc003mds.4	+	6	2106	c.1699G>A	c.(1699-1701)Gtc>Atc	p.V567I	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.V152I|C5orf25_uc003mdv.3_Missense_Mutation_p.V28I			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	567												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCCTGGGCGAGTCCTTTTCCT	0.483000														81			69		0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	407524	407524	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:407524T>C	uc003msz.4	+	8	1408	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	IRF4_uc003mtb.4_Missense_Mutation_p.Y427H|IRF4_uc021ykl.1_Missense_Mutation_p.Y274H|IRF4_uc003mta.4_Non-coding_Transcript	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	428					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTGAGGGGCTACGATTTACC	0.368000			T	IGH@	MM									40			10		0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203762097	203762097	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:203762097G>A	uc002uzl.3	-	4	1130	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	127	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCTTCCAAGGACCAGATCCG	0.378000														32			15		0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84658743	84658743	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:84658743G>A	uc002son.3	-	6	907	c.714C>T	c.(712-714)gaC>gaT	p.D238D		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	238					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TTTCGAGGCAGTCAATAAAAT	0.368000														23			21		0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153042967	153042967	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:153042967G>A	uc003qpc.4	+	1	295	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	96						nucleus		p.R95G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CTGTCTCGAAGAAGAAGAGCC	0.478000														41			20		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933431	43933431	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:43933431C>T	uc002xnn.2	-	2	267	c.80G>A	c.(79-81)aGg>aAg	p.R27K	MATN4_uc002xnp.2_Missense_Mutation_p.R27K|MATN4_uc002xno.2_Missense_Mutation_p.R27K|MATN4_uc010zwr.1_Intron|MATN4_uc002xnr.1_Missense_Mutation_p.R27K|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	27						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGTGTGACACCTGGGACCTGC	0.622000														8			10		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277451	131277451	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:131277451G>C	uc003qch.2	-	1	357	c.175C>G	c.(175-177)Cta>Gta	p.L59V	EPB41L2_uc010kfl.2_Missense_Mutation_p.L59V|EPB41L2_uc003qcg.1_Missense_Mutation_p.L59V|EPB41L2_uc003qci.3_Missense_Mutation_p.L59V|EPB41L2_uc011eby.2_Missense_Mutation_p.L59V|EPB41L2_uc010kfk.2_Missense_Mutation_p.L59V	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	59					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGGCGGCGTAGACTACTTTGG	0.468000														56			30		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056655	153056655	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:153056655G>A	uc011dcy.2	+	6	1020	c.993G>A	c.(991-993)ggG>ggA	p.G331G	GRIA1_uc003lva.4_Silent_p.G321G|GRIA1_uc003luy.4_Silent_p.G321G|GRIA1_uc003luz.4_Silent_p.G226G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.G241G|GRIA1_uc011dcx.2_Silent_p.G252G|GRIA1_uc011dcz.2_Silent_p.G331G|GRIA1_uc010jia.1_Silent_p.G301G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	321					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.W331C(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAATGCTGGGGATTGTCTGG	0.567000														12			10		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488972	17488972	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:17488972C>T	uc002zlw.3	-	0	141	c.33G>A	c.(31-33)gaG>gaA	p.E11E	GAB4_uc010gqs.1_Silent_p.E11E	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	11										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGGCACAGCTCCCGGGAGG	0.682000														2			5		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55152105	55152105	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:55152105C>T	uc010ooe.1	+	14	3019	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.P467S|HEATR8_uc010ood.1_Missense_Mutation_p.P417S|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Intron|HEATR8_uc010oog.1_Missense_Mutation_p.P899S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.P101S|HEATR8_uc001cxu.3_Missense_Mutation_p.P45S	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	899						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAGCCCTCTCCCTTCGTACC	0.622000														19			13		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36162702	36162702	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:36162702G>A	uc004ddk.1	+	10	1471	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	429						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						gtttccaaaggagatggatgc	0.468000														23			21		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52569975	52569975	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:52569975C>T	uc002xws.2	-	10	2014	c.1676G>A	c.(1675-1677)gGc>gAc	p.G559D	BCAS1_uc010zza.1_Missense_Mutation_p.G225D|BCAS1_uc010zzb.1_Missense_Mutation_p.G485D|BCAS1_uc010gim.2_Missense_Mutation_p.G415D|BCAS1_uc002xwt.2_Missense_Mutation_p.G545D|BCAS1_uc010gil.1_Missense_Mutation_p.G481D	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	559						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTACCAGGCCTTTAAAGAA	0.517000														24			11		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109940906	109940906	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:109940906C>T	uc001top.3	+	13	1964	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	UBE3B_uc001toq.3_Missense_Mutation_p.S454F|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.S454F	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	454					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGGGTCGACTCTGCAGAAGTC	0.517000														23			25		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7697616	7697616	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:7697616T>G	uc021pmv.1	-	1	219	c.113A>C	c.(112-114)cAa>cCa	p.Q38P	ITIH5_uc001ijr.2_Missense_Mutation_p.Q38P	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	38	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTCTGACTTGCCTCGGGAC	0.403000														21			7		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18882028	18882028	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:18882028C>T	uc002guw.3	-	4	1118	c.951G>A	c.(949-951)atG>atA	p.M317I	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	317										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GTTCCTTCTCCATAGGGATGC	0.602000														54			23		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440578	78440578	+	Silent	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:78440578G>T	uc001ozl.4	-	21	3712	c.3249C>A	c.(3247-3249)acC>acA	p.T1083T		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1083					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGAAGGGGATGGTCGGGTGGG	0.567000														19			10		0.0581538	0.0582627	1	1	0
PTGER3	5733	broad.mit.edu	37	1	71512400	71512400	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:71512400G>A	uc001dfn.3	-	0	1092	c.861C>T	c.(859-861)atC>atT	p.I287I	PTGER3_uc001dfg.1_Silent_p.I287I|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Silent_p.I287I|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Silent_p.I287I|PTGER3_uc009wbm.1_Silent_p.I287I|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Silent_p.I287I|PTGER3_uc009wbo.3_Silent_p.I287I|PTGER3_uc001dfo.3_Silent_p.I287I|PTGER3_uc001dfp.1_Silent_p.I287I|PTGER3_uc001dfq.3_Silent_p.I287I|ZRANB2-AS1_uc001dfr.3_Non-coding_Transcript	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	287					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.I287I(6)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCACGCACATGATCCCCATAA	0.627000														24			14		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407044	140407044	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:140407044C>T	uc003eto.2	+	2	1726	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	507						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTGCCCTCCCCCTACCCCGTG	0.572000														32			17		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073649	197073649	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:197073649G>A	uc001gtu.3	-	17	4989	c.4732C>T	c.(4732-4734)Cga>Tga	p.R1578*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1578					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTAAAAATCGAACTCTGTCT	0.338000														28			20		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36226038	36226038	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:36226038G>T	uc001wtj.3	-	6	1015	c.624C>A	c.(622-624)agC>agA	p.S208R	RALGAPA1_uc001wti.3_Missense_Mutation_p.S208R|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S208R|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S208R|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S59R	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	208					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGAAAATAGCTTGTGAGAT	0.378000														38			19		2.4624e-09	2.49741e-09	1	1	0
SENP1	29843	broad.mit.edu	37	12	48491775	48491775	+	Splice_Site	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:48491775A>G	uc001rqx.3	-	3	581	c.135_splice	c.e3+1	p.Q45_splice	SENP1_uc001rqw.3_Splice_Site_p.Q45_splice|SENP1_uc001rqy.3_Splice_Site|SENP1_uc001rqz.3_Splice_Site|SENP1_uc009zkx.3_Splice_Site_p.Q45_splice	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	45	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTGCTCCTAACCTGCTGGTC	0.393000														11			8		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374026	42374026	+	Missense_Mutation	SNP	C	T	T	rs150830051		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:42374026C>T	uc001zox.3	-	9	885	c.790G>A	c.(790-792)Gga>Aga	p.G264R		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	264					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCCTCACTCCTGGGGCCTGA	0.577000														46			81		0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41105055	41105055	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:41105055C>G	uc001zmt.1	+	6	1499	c.985C>G	c.(985-987)Ctg>Gtg	p.L329V	ZFYVE19_uc001zmu.1_Intron|ZFYVE19_uc001zmv.1_Missense_Mutation_p.L154V	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	329							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GATTCTGGCCCTGGCCAAGCG	0.632000														60			21		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105356087	105356087	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:105356087G>C	uc001yps.3	+	11	4071	c.3765G>C	c.(3763-3765)gaG>gaC	p.E1255D	KIAA0284_uc010axb.3_Missense_Mutation_p.E1220D|KIAA0284_uc001ypt.3_5'UTR	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1325						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGATTGCGGAGATTGCCAGGT	0.632000														36			14		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21328382	21328382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:21328382C>T	uc002ztj.2	+	4	604	c.386C>T	c.(385-387)cCc>cTc	p.P129L	LZTR1_uc002ztk.2_Missense_Mutation_p.P129L|LZTR1_uc002ztl.2_Missense_Mutation_p.P135L|LZTR1_uc011ahx.1_Missense_Mutation_p.P117L	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTGCGCTGCCCCTGGCACGGC	0.657000														6			5		0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34991079	34991079	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:34991079C>T	uc002nvm.3	+	7	1198	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CCGTTGCTATCCCCTGGCGGG	0.657000														10			14		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64027419	64027419	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:64027419G>A	uc001dbf.3	+	10	1682	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	463							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						ACAAGACAAGGATTTATGGAT	0.313000														21			11		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239744	3239744	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:3239744C>T	uc004crg.4	-	4	4139	c.3982G>A	c.(3982-3984)Gat>Aat	p.D1328N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1328						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAACATCATCCTTAATTTCT	0.373000														32			27		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253304	24253304	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:24253304G>A	uc003xdz.2	+	4	655	c.435G>A	c.(433-435)ggG>ggA	p.G145G	ADAMDEC1_uc010lub.2_Silent_p.G66G|ADAMDEC1_uc011lab.1_Silent_p.G66G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	145					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTGTGACGGGTTGAGGTAAG	0.343000														25			12		0	0	1	0	0
POLR2I	5438	broad.mit.edu	37	19	36605721	36605722	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:36605721_36605722CC>TT	uc002ode.3	-	0	485_486	c.37_38GG>AA	c.(37-39)ggt>AAt	p.G13N	POLR2I_uc002odf.3_Non-coding_Transcript|TBCB_uc002odg.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa (POLR2I), mRNA.	13					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAAGCGAATACCCACGAAGCCC	0.683000														69			65		0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849295	110849295	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:110849295G>A	uc002tfk.3	-	1	932	c.158C>T	c.(157-159)cCc>cTc	p.P53L	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	53	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TTGCAGCAAGGGGTATACTAT	0.438000														49			9		0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544219	53544220	+	Missense_Mutation	DNP	GG	AA	AA	rs148954257	byFrequency	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:53544219_53544220GG>AA	uc001cuv.3	+	7	1349_1350	c.1181_1182GG>AA	c.(1180-1182)cgg>cAA	p.R394Q	PODN_uc010onr.2_Missense_Mutation_p.R375Q|PODN_uc010ons.2_Missense_Mutation_p.R252Q|PODN_uc001cuw.3_Missense_Mutation_p.R375Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	346					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCAGCTGCGGGAGCAGGGCA	0.653000														28			9		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137786462	137786462	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:137786462G>A	uc003erq.3	-	13	2276	c.1913C>T	c.(1912-1914)tCc>tTc	p.S638F		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	638						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCATCCTGGAAGGAACTTT	0.622000														26			14		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38133214	38133214	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:38133214C>T	uc002htl.1	+	11	1359	c.1241C>T	c.(1240-1242)tCg>tTg	p.S414L	GSDMA_uc002htm.1_Missense_Mutation_p.S414L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	414					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GTGCAGAGATCGGGCCCCCAA	0.592000														30			23		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141242965	141242965	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:141242965G>A	uc002tvj.1	-	58	10344	c.9372C>T	c.(9370-9372)ctC>ctT	p.L3124L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3124					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)		TTTTGCTAACGAGTATAGTAG	0.368000										TSP Lung(27;0.18)				19			12		0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200042	66200042	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:66200042C>T	uc001xin.3	+	9	3080	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	FUT8_uc001xio.3_Silent_p.I451I|FUT8_uc010tsp.2_Silent_p.I288I|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Silent_p.I451I|FUT8_uc001xiq.3_Silent_p.I322I|FUT8_uc021ruy.1_Silent_p.I322I	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	451					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GTGGAGTGATCCTGGATATAC	0.383000														33			23		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11105495	11105495	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:11105495C>T	uc001aru.3	-	3	546	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	MASP2_uc001arv.3_Missense_Mutation_p.V172I|MASP2_uc001arw.3_3'UTR|MASP2_uc001arx.2_Missense_Mutation_p.V172I	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	172	EGF-like; calcium-binding.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGGTGCAGGACGTAGCCTGCG	0.677000														21			3		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624918	23624918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:23624918C>T	uc003swk.2	-	0	1229	c.579G>A	c.(577-579)tgG>tgA	p.W193*						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TGTTCTCATCCCAATCCAGGC	0.512000														34			18		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48266964	48266964	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:48266964G>A	uc001ngs.1	+	0	309	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTGGCACTGAGATTTTCCTGC	0.512000														40			26		0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1163999	1163999	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:1163999G>A	uc001adh.4	-	1	504	c.175C>T	c.(175-177)Cca>Tca	p.P59S	SDF4_uc001adi.4_Missense_Mutation_p.P59S|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	59					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGGTGGTCTGGGGGCAGGATC	0.612000														34			23		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52940169	52940169	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:52940169G>A	uc003dgf.3	-	20	3043	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	SFMBT1_uc010hmr.3_Intron|SFMBT1_uc003dgg.3_Missense_Mutation_p.S807F|SFMBT1_uc003dgh.3_Missense_Mutation_p.S807F	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	807	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ACAGTCAGTGGATCTGATGAA	0.413000														18			23		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168845663	168845663	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:168845663C>T	uc011bpj.1	-	4	1202	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	MECOM_uc010hwk.1_Missense_Mutation_p.E102K|MECOM_uc003ffj.3_Missense_Mutation_p.E143K|MECOM_uc003ffi.3_Missense_Mutation_p.E79K|MECOM_uc011bpi.1_Missense_Mutation_p.E79K|MECOM_uc003ffn.3_Missense_Mutation_p.E79K|MECOM_uc003ffk.2_Missense_Mutation_p.E79K|MECOM_uc003ffl.2_Missense_Mutation_p.E239K|MECOM_uc011bpk.1_Missense_Mutation_p.E79K|MECOM_uc010hwn.2_Missense_Mutation_p.E267K|MECOM_uc003ffm.1_Missense_Mutation_p.E143K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTCACATTCCTTACACTCC	0.393000														49			24		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471453	58471453	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:58471453G>A	uc002aez.2	+	4	979	c.622G>A	c.(622-624)Gga>Aga	p.G208R	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.G143R	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	208					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TTCCTCCCTGGGACTGAACAG	0.537000														30			14		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167254679	167254679	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:167254679G>C	uc003fev.1	-	6	1181	c.877C>G	c.(877-879)Cct>Gct	p.P293A	WDR49_uc003feu.1_Missense_Mutation_p.P118A|WDR49_uc011bpd.1_Missense_Mutation_p.P357A|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	293								p.P293H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTTTGTGGAGGTAAAAACGCA	0.388000														14			7		0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89653081	89653081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:89653081C>T	uc002fnp.3	+	9	1139	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	CPNE7_uc002fnq.3_Nonsense_Mutation_p.Q262*	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	337					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GCCCCAGGCCCAGTGGGACTG	0.587000														5			24		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815695	105815695	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:105815695G>A	uc001kxr.3	-	17	1701	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	COL17A1_uc010qqv.1_Missense_Mutation_p.P495L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	511	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCCCCATAGGGCAGTATGCT	0.587000														63			43		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141794549	141794549	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:141794549G>A	uc003vwy.3	+	39	4710	c.4656G>A	c.(4654-4656)acG>acA	p.T1552T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1552	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTTTCAGACGGGAGCAGATA	0.473000														30			13		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814014	60814014	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:60814014G>A	uc010dds.3	-	6	1614	c.1329C>T	c.(1327-1329)acC>acT	p.T443T	MARCH10_uc010ddr.3_Silent_p.T405T|MARCH10_uc002jag.4_Silent_p.T405T|MARCH10_uc002jah.2_Silent_p.T404T|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	405							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCGGATTTGGTGTCCCACG	0.502000														48			23		0	0	1	0	0
MRPL39	54148	broad.mit.edu	37	21	26976125	26976125	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:26976125G>A	uc002yln.3	-	2	417	c.403C>T	c.(403-405)Cca>Tca	p.P135S	MRPL39_uc002ylo.3_Missense_Mutation_p.P135S	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	135						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACTTCTCCTGGATCACAATCT	0.368000														13			10		0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654797	15654797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:15654797G>A	uc002nbh.4	+	8	1122	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	319						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGATGGAAAGGAACTGTCAGA	0.557000														29			25		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55598326	55598327	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:55598326_55598327GG>AA	uc021onw.1	-	30	3681_3682	c.3428_3429CC>TT	c.(3427-3429)tcc>tTT	p.S1143F	USP24_uc001cyg.4_Missense_Mutation_p.S977F	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1143	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGATGACAGGGATGGAGATTT	0.391000														15			7		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155269926	155269926	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:155269926G>A	uc001fkb.4	-	1	285	c.246C>T	c.(244-246)ccC>ccT	p.P82P	PKLR_uc001fka.4_Silent_p.P51P|PKLR_uc010pga.1_Silent_p.P18P	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	82					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GAGCAGCCACGGGCTCGGAGT	0.582000														35			19		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809231	31809231	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:31809231C>T	uc001ivs.4	+	6	1031	c.968C>T	c.(967-969)cCc>cTc	p.P323L	ZEB1_uc001ivr.4_Missense_Mutation_p.P105L|ZEB1_uc010qef.2_Missense_Mutation_p.P105L|ZEB1_uc009xlj.1_Missense_Mutation_p.P249L|ZEB1_uc010qeg.1_Missense_Mutation_p.P182L|ZEB1_uc009xlk.1_Missense_Mutation_p.P105L|ZEB1_uc001ivu.4_Missense_Mutation_p.P324L|ZEB1_uc010qeh.2_Missense_Mutation_p.P256L|ZEB1_uc001ivv.4_Missense_Mutation_p.P303L|ZEB1_uc001ivt.4_Missense_Mutation_p.P105L|ZEB1_uc009xlo.2_Missense_Mutation_p.P306L|ZEB1_uc009xlp.3_Missense_Mutation_p.P307L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	323					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)				CCAGGCAGTCCCACACGACCA	0.418000														26			17		0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120847962	120847962	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:120847962C>T	uc002tmg.3	+	11	1104	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	EPB41L5_uc010flk.3_Missense_Mutation_p.H305Y|EPB41L5_uc010fll.3_Missense_Mutation_p.H305Y|EPB41L5_uc002tmh.4_Missense_Mutation_p.H305Y|EPB41L5_uc010flm.3_Missense_Mutation_p.H109Y	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	305	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAGACTGGATCATCCAAAAGC	0.388000														40			37		0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182069	2182069	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:2182069C>T	uc021qcd.1	-	0	371	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	IGF2_uc001lvi.3_Non-coding_Transcript|INS-IGF2_uc001lvm.3_Missense_Mutation_p.E45K|INS-IGF2_uc001lvo.1_Missense_Mutation_p.E45K|INS-IGF2_uc001lvn.2_Missense_Mutation_p.E45K|INS-IGF2_uc009ydg.1_Missense_Mutation_p.E45K	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	45					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AAGCCTCGTTCCCCGCACACT	0.667000														20			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141643791	141643791	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:141643791C>T	uc002tvj.1	-	23	4852	c.3880G>A	c.(3880-3882)Gat>Aat	p.D1294N	LRP1B_uc010fnl.1_Missense_Mutation_p.D476N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1294					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)		AAGTGAAAATCAAGTGCTATT	0.338000										TSP Lung(27;0.18)				15			13		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141542232	141542232	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:141542232A>G	uc003yvn.3	-	18	2532	c.2491T>C	c.(2491-2493)Tct>Cct	p.S831P	EIF2C2_uc010meo.3_Missense_Mutation_p.S797P|EIF2C2_uc010men.3_Missense_Mutation_p.S754P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	831					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CTCTGCCCAGAGGTATGGCTT	0.532000														107			34		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607853	141607853	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:141607853C>T	uc002tvj.1	-	28	5729	c.4757G>A	c.(4756-4758)gGa>gAa	p.G1586E	LRP1B_uc010fnl.1_Missense_Mutation_p.G768E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1586					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)		AATATCCACTCCTCTGATTTC	0.348000										TSP Lung(27;0.18)				22			8		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134650321	134650321	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:134650321C>T	uc021qbc.1	-	45	6637	c.6536_splice	c.e45+1	p.R2179_splice		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	340										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCGGCTTTACCTGTCCCCTGA	0.602000														45			35		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372417	76372417	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:76372417C>T	uc001oxq.4	-	2	463	c.220G>A	c.(220-222)Gca>Aca	p.A74T	LRRC32_uc001oxr.4_Missense_Mutation_p.A74T|LRRC32_uc010rsf.2_Missense_Mutation_p.A74T	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	74						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGACGAAGTGCTGTGTAGAAG	0.617000														21			14		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52583609	52583609	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:52583609C>T	uc002xws.2	-	8	1524	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.V344M|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Missense_Mutation_p.V382M|BCAS1_uc010gil.1_Intron	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	396						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GACTCACACACCACCTGGATT	0.438000														55			21		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44248953	44248953	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:44248953G>A	uc002ikc.3	-	1	1028	c.557C>T	c.(556-558)tCt>tTt	p.S186F	KANSL1_uc002ikd.3_Missense_Mutation_p.S186F|KANSL1_uc010dav.3_Missense_Mutation_p.S186F	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	186						MLL1 complex	protein binding										ATGAAGAGCAGATGAAGTGAG	0.458000														98			34		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149439417	149439417	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:149439417G>A	uc003lrl.3	-	13	2173	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Intron|CSF1R_uc003lrm.3_Silent_p.L660L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	660	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTGATGACCAGTACAGGGCCT	0.627000														26			14		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035708	17035708	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:17035708C>T	uc010rcu.1	-	1	142	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	PLEKHA7_uc001mmo.3_Missense_Mutation_p.G43R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	43					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACGGGCTCCCCGGTGCGCGGA	0.746000														6			6		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13781007	13781007	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:13781007C>T	uc003jfd.2	-	52	8924	c.8882G>A	c.(8881-8883)gGa>gAa	p.G2961E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2961	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTCTGCTTTCCTGATCCGCC	0.463000									Kartagener syndrome					15			11		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560486	44560486	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:44560486C>T	uc002lcr.1	-	0	1503	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	384					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGTATTTTTCACATGACAGA	0.488000														38			24		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57744476	57744476	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:57744476G>A	uc010bfw.3	+	6	2236	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	CGNL1_uc002aeg.3_Silent_p.K681K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	681						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)		AGCTCCGGAAGAATCTGGAGG	0.498000														12			10		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118832011	118832011	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:118832011G>A	uc003yok.1	-	5	2213	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	480					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGACTGCAGTGAATTTGGAGG	0.522000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					105			27		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18002954	18002954	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:18002954C>T	uc002gsh.1	+	4	439	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DRG2_uc010vxg.1_Missense_Mutation_p.P134S	NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	128	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CAGGAAAAGGCCGTGGCCGGC	0.612000														5			3		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093276	69093276	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:69093276G>A	uc002sez.1	-	1	921	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	254					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|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	Z disc|cell surface|extracellular space	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						CAGAAAACACGATGAGCAAAG	0.483000														11			11		0	0	1	0	0
HMGCS1	3157	broad.mit.edu	37	5	43298699	43298699	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:43298699G>A	uc003jnr.4	-	2	576	c.369C>T	c.(367-369)atC>atT	p.I123I	HMGCS1_uc003jnq.4_Silent_p.I123I	NM_001098272	NP_002121	Q01581	HMCS1_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble) (HMGCS1), transcript variant 1, mRNA.	123					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						TAGTTGTGTCGATTCCTTCTA	0.428000														34			26		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934324	176934324	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:176934324C>T	uc001glc.3	-	8	1785	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ASTN1_uc001glb.1_Missense_Mutation_p.E525K|ASTN1_uc001gld.1_Missense_Mutation_p.E525K|ASTN1_uc009wwx.1_Missense_Mutation_p.E525K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	533					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGGCTGCTCTCCCAAAACC	0.423000														26			19		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21262098	21262098	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:21262098A>C	uc010bwp.1	+	1	1254	c.1211A>C	c.(1210-1212)cAg>cCg	p.Q404P	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	404										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGGAGGAAGCAGGTGCTTCAA	0.557000														62			21		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015840	34015840	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:34015840C>T	uc001bxm.1	-	55	9031	c.8854G>A	c.(8854-8856)Gga>Aga	p.G2952R	CSMD2_uc001bxn.1_Missense_Mutation_p.G2808R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2928	Sushi 22.					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)				GTGCTGTTTCCCACCAGAGTA	0.597000														42			24		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40589767	40589767	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:40589767C>T	uc001zld.3	-	12	1579	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	PLCB2_uc010bbo.3_Silent_p.T426T|PLCB2_uc010ucm.2_Silent_p.T426T	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	426	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	p.T426T(2)		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)		CCCCAAAGATCGTCCGGCAAT	0.597000														16			16		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891144	45891144	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:45891144C>T	uc002ilx.1	-	14	1611	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	OSBPL7_uc002ilw.1_Missense_Mutation_p.A32T	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	470					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGCCCGCTGGCCGCCGGCAGG	0.667000														14			12		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075525	122075525	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:122075525C>T	uc004bkc.2	-	1	565	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	DBC1_uc004bkd.2_Missense_Mutation_p.E37K	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	37					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAATCAAATTCCTTGGAGACA	0.498000														3			13		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21521639	21521639	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:21521639C>T	uc003sva.3	+	4	2186	c.2005C>T	c.(2005-2007)Cgc>Tgc	p.R669C	SP4_uc003svb.3_Missense_Mutation_p.R356C	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	669					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGCACATCTTCGCTGGCATAC	0.408000														27			22		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212248773	212248773	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:212248773G>A	uc002veg.1	-	27	3592	c.3494C>T	c.(3493-3495)cCa>cTa	p.P1165L	ERBB4_uc002veh.1_Missense_Mutation_p.P1149L|ERBB4_uc010zji.1_Missense_Mutation_p.P1155L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1139L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1165					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTCCTCCACTGGATTCAGGTA	0.383000										TSP Lung(8;0.080)				26			25		0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472294	231472295	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:231472294_231472295GG>AA	uc001huq.3	-	0	1284_1285	c.1197_1198CC>TT	c.(1195-1200)tcccca>tcTTca	p.P400S		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	400					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GAACGATCTGGGGAGAGTTCGA	0.540000														26			15		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16610839	16610839	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:16610839G>A	uc002gqk.1	+	3	797	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	CCDC144A_uc002gql.1_5'UTR	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	241																	TAAAGGATGCGAAAATAAGCA	0.348000														10			3		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718715	80718716	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:80718715_80718716GG>AA	uc002ffs.3	-	1	440_441	c.335_336CC>TT	c.(334-336)ccc>cTT	p.P112L		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	112						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GCTTGGCCAGGGGAGGGTTAAT	0.550000														10			11		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24435491	24435492	+	Splice_Site	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:24435491_24435492GG>AA	uc001wla.3	+	6	565	c.532_splice	c.e6-1	p.G178_splice	DHRS4_uc010aky.2_Intron|DHRS4_uc001wlb.3_Splice_Site_p.G144_splice|DHRS4_uc010akz.3_Intron|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Splice_Site_p.G178_splice	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 (DHRS4), mRNA.	178						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TCTTTCTCCAGGGCTTCAGTCC	0.480000														47			20		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22415324	22415324	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:22415324G>A	uc003gqm.1	-	12	2188	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GPR125_uc010ieo.1_Silent_p.F497F	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	641					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCCATTGCGGAATGCAATGA	0.423000														33			16		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114044355	114044355	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:114044355G>A	uc001kzr.1	+	1	139	c.139G>A	c.(139-141)Gga>Aga	p.G47R		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	47	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GTGTCCCTATGGATGGGAAGT	0.443000														14			5		0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772543	99772544	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:99772543_99772544CC>TT	uc001dse.3	+	6	2427_2428	c.2269_2270CC>TT	c.(2269-2271)ccc>TTc	p.P757F	LPPR4_uc010oue.2_Missense_Mutation_p.P699F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	757							phosphatidate phosphatase activity	p.P757fs*5(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGGAACCTCCCCCACACGGGCT	0.465000														47			25		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187608231	187608231	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:187608231C>T	uc002ups.3	+	2	606	c.494C>T	c.(493-495)tCa>tTa	p.S165L	FAM171B_uc002upr.1_Missense_Mutation_p.S165L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	165						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTACACTTTCACTGTTCCCG	0.323000														29			16		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180229	139180229	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:139180229G>A	uc003yuy.3	-	11	1338	c.1167C>T	c.(1165-1167)ccC>ccT	p.P389P	FAM135B_uc003yux.3_Silent_p.P290P|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGCAGCGGGGGCATGCTAG	0.602000										HNSCC(54;0.14)				132			26		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243659	171243660	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:171243659_171243660CC>TT	uc002ufy.3	+	13	1561_1562	c.1418_1419CC>TT	c.(1417-1419)tcc>tTT	p.S473F	MYO3B_uc002ufv.3_Missense_Mutation_p.S460F|MYO3B_uc010fqb.1_Missense_Mutation_p.S473F|MYO3B_uc002ufz.3_Missense_Mutation_p.S473F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	473	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CAAGTCAACTCCCTGGTGGAAG	0.441000														26			13		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48548427	48548427	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:48548427C>T	uc010wmm.1	+	11	1433	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	ACSF2_uc002iqu.2_Silent_p.F418F|ACSF2_uc010wml.1_Silent_p.F375F|ACSF2_uc010wmn.1_Silent_p.F405F|ACSF2_uc010wmo.1_Silent_p.F258F|CHAD_uc010dbr.3_5'Flank|CHAD_uc010dbs.3_5'Flank|ACSF2_uc010dbt.1_5'UTR	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	418					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGTGACATTCGCGCACTTCC	0.557000														28			11		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47855918	47855918	+	Silent	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:47855918C>G	uc002zji.4	+	38	8960	c.8853C>G	c.(8851-8853)cgC>cgG	p.R2951R	PCNT_uc002zjj.3_Silent_p.R2754R	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2951					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGGCAGCCGCCTCCACCTAG	0.622000														73			38		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640353	83640353	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:83640353A>C	uc003uhz.3	-	8	1295	c.980T>G	c.(979-981)gTg>gGg	p.V327G		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	327	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGTCGTAAACACTCCATATAC	0.294000														25			4		0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28086074	28086074	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:28086074C>T	uc001bor.3	+	8	977	c.875C>T	c.(874-876)tCg>tTg	p.S292L	FAM76A_uc009vtb.3_Missense_Mutation_p.S258L|FAM76A_uc001boq.3_Missense_Mutation_p.S258L|FAM76A_uc001bos.3_Missense_Mutation_p.S263L|FAM76A_uc001bot.3_Missense_Mutation_p.S229L|FAM76A_uc010ofm.2_Missense_Mutation_p.S178L	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	258										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TACCAGGAATCGCAGATGAGA	0.383000														19			12		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63157006	63157006	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:63157006G>A	uc002jfe.3	+	5	605	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RGS9_uc021ubw.1_Silent_p.G134G|RGS9_uc010dem.3_Silent_p.G134G|RGS9_uc002jfd.3_Silent_p.G134G	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	134					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAAAGAAAGGGATTTTGGAAG	0.388000														28			30		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16973933	16973933	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:16973933C>T	uc009vow.2	+	4		c.743C>T			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGGGTCTTCTTCACGCCCC	0.657000														28			3		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:3427845C>T	uc010qxs.1	+	8		c.838C>T			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CTTCAAGTGGCAGGAGCAGAA	0.587000														32			4		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065184	73065184	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:73065184G>A	uc004ebm.1	-	0		c.7405C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TGCAAAAAGGGTCTGAGAGTA	0.468000														17			38		0	0	1	0	0
IFNW1	3467	broad.mit.edu	37	9	21141283	21141283	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:21141283G>T	uc003zol.1	-	0	862	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	96					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGCAGCAGAGGAGCGCTCTGT	0.547000														8			17		3.41278e-10	3.46459e-10	1	1	0
FAT4	79633	broad.mit.edu	37	4	126370646	126370646	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:126370646G>A	uc003ifj.4	+	8	8475	c.8475G>A	c.(8473-8475)ggG>ggA	p.G2825G	FAT4_uc011cgp.2_Silent_p.G1123G|FAT4_uc003ifi.1_Silent_p.G303G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2825	Cadherin 27.				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						CCAGCACAGGGGATATTGTCA	0.403000														35			23		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410425	159410425	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:159410425C>T	uc010piv.2	+	0	914	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	293					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGTCATCACTCCCCTACTGAA	0.507000														35			21		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173553	87173553	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:87173553C>T	uc003uiz.2	-	17	2596	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	ABCB1_uc011khc.2_Missense_Mutation_p.M637I	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	701					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.M701R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATTTAGCTTCATAATCCTCC	0.313000														29			34		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934732	113934732	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:113934732G>A	uc001pop.3	+	1	974	c.710G>A	c.(709-711)gGg>gAg	p.G237E	ZBTB16_uc001poo.1_Missense_Mutation_p.G237E|ZBTB16_uc001poq.3_Missense_Mutation_p.G237E	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	237					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.G237V(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGGCACCCTGGGGTGGCTGAG	0.642000														8			8		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108127150	108127150	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:108127150G>T	uc003dxa.1	-	32	4714	c.4657C>A	c.(4657-4659)Cag>Aag	p.Q1553K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1553						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTGTCACCTGGACTTCTGTC	0.408000														73			45		1.0096e-33	1.03872e-33	1	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73071486	73071486	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:73071486C>G	uc001otu.3	+	10	4349	c.4328C>G	c.(4327-4329)cCc>cGc	p.P1443R		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1443					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCCACTCGGCCCGAGGGCACC	0.617000														70			41		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828466	6828466	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:6828466G>A	uc002mfu.1	+	10	1157	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	VAV1_uc010xjh.1_Missense_Mutation_p.E322K|VAV1_uc010dva.1_Missense_Mutation_p.E354K|VAV1_uc002mfv.1_Missense_Mutation_p.E299K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	354	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATGGAGAAGGAGAACCTGCG	0.627000														49			33		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139726008	139726008	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:139726008G>A	uc003vvl.1	-	10	2643	c.1769C>T	c.(1768-1770)tCc>tTc	p.S590F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	590	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTTGCCGTAGGAAGTGCCATG	0.587000														46			19		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436378	248436378	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:248436378C>T	uc010pzi.2	-	0	739	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TAAAAGAGTCCCACCACAGCC	0.498000														27			16		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972930	25972930	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:25972930G>T	uc002rgs.2	-	10	1716	c.1495C>A	c.(1495-1497)Cag>Aag	p.Q499K	ASXL2_uc002rgt.1_Missense_Mutation_p.Q239K	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	499					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)					TCAGATTCCTGTTCAGCAGAG	0.453000														62			39		6.29468e-14	6.4207e-14	1	1	0
DCX	1641	broad.mit.edu	37	X	110654100	110654100	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:110654100C>T	uc004epd.3	-	0	275	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	DCX_uc011msv.2_Missense_Mutation_p.E35K|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	35					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGACAAAATTCCCCTTGAAGA	0.423000														25			43		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190386	58190386	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:58190386C>T	uc010rkg.2	-	0	401	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M116L(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CGGTCATAGGCCATTGAGGCC	0.517000														19			13		0	0	1	0	0
HERC2P2	400322	broad.mit.edu	37	15	23335584	23335584	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:23335584G>A	uc001yvr.2	-	2	297	c.97C>T	c.(97-99)Cat>Tat	p.H33Y	HERC2P2_uc010ayf.1_Intron					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		TCGTTATTATGGTTCTCCAAA	0.368000														31			8		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141622683	141622684	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:141622683_141622684GG>AA	uc010ioj.3	-	1	487_488	c.215_216CC>TT	c.(214-216)tcc>tTT	p.S72F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	72						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTAGACCAGGGAGTCTGGAGT	0.500000														13			7		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299826	158299826	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:158299826G>A	uc001frx.3	-	2	531	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CD1B_uc001frw.3_Silent_p.F141F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	141					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.F141F(2)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGACACTCAGGAAATCCAATC	0.483000														83			52		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10100179	10100179	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:10100179C>T	uc002mmq.1	-	24	2098	c.2012G>A	c.(2011-2013)gGa>gAa	p.G671E		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	671	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCCTGGAATTCCTGGGTTTCC	0.567000														25			13		0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24614322	24614322	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:24614322G>A	uc001wmj.3	-	5	370	c.305C>T	c.(304-306)tCc>tTc	p.S102F	RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	102					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		GGCAAGCAGGGACAGGACTTT	0.502000														47			36		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238619	3238619	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:3238619C>T	uc004crg.4	-	4	5264	c.5107G>A	c.(5107-5109)Gga>Aga	p.G1703R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1703						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGTTATTTCCAAACACTTTG	0.428000														44			30		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047460	160047460	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:160047460C>T	uc003lym.1	-	14	3157	c.2310G>A	c.(2308-2310)agG>agA	p.R770R	ATP10B_uc010jit.1_Silent_p.R87R|ATP10B_uc003lyn.3_Silent_p.R328R	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	770					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATTCTCTTCCTGACAGAGT	0.592000														22			8		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2525	2525	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrGL000237.1:2525C>T	uc011mgu.1	-	0		c.162G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctcaggccaccctcctaacac	0.637000														13			10		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77220694	77220694	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:77220694C>T	uc001syk.1	+	8	1067	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZDHHC17_uc001syj.2_Non-coding_Transcript	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	302					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACAGGAATTTCGGCAGAAAGT	0.358000														23			17		0	0	1	0	0
BMP8A	353500	broad.mit.edu	37	1	39957963	39957963	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:39957963C>T	uc001cdi.3	+	0	646	c.300C>T	c.(298-300)ggC>ggT	p.G100G		NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	Homo sapiens bone morphogenetic protein 8a (BMP8A), mRNA.	100					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCGCCTGGGCCGCGCCGACC	0.741000														2			11		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714354	49714354	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:49714354C>T	uc010hkw.1	+	9	1296	c.896C>T	c.(895-897)tCc>tTc	p.S299F	APEH_uc003cxf.3_Missense_Mutation_p.S299F	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	299					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGATGACTCCCTGGCTGTC	0.587000														39			20		0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77327075	77327075	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:77327075G>A	uc001xsx.2	+	10	1258	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	C14orf166B_uc010asn.1_Missense_Mutation_p.G142R|C14orf166B_uc001xsw.2_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	382										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AACGTTGGACGGAGTGTATGC	0.542000														14			9		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33587427	33587427	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:33587427G>A	uc002xbi.2	+	36	5037	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1532						membrane|myosin filament	ATP binding|actin 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)			GAGCATCCAGGAACTGGAGAA	0.607000														11			8		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892164	72892164	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:72892164G>A	uc003tyc.3	-	6	1979	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	543	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TATTCTTTCCGTTGTTCTTCA	0.388000														87			56		0	0	1	0	0
WDR86	349136	broad.mit.edu	37	7	151097258	151097258	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:151097258G>A	uc011kvk.1	-	1	682	c.233C>T	c.(232-234)aCc>aTc	p.T78I	WDR86_uc003wka.2_Missense_Mutation_p.T36I|WDR86_uc003wkb.2_Missense_Mutation_p.T78I|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	78								p.C77C(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTGATGGTGCAGTCGGC	0.612000														8			9		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23586998	23586998	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:23586998G>A	uc001wiv.2	-	1	1064	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTCAGGAGGGGACTGCAGGGG	0.677000														22			26		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848172	73848172	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:73848172C>T	uc003xzb.3	+	2	1170	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	194					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTTTCCAGATCCTGGCCATCG	0.463000														118			45		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198821	86198822	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:86198821_86198822CC>GT	uc001taf.1	-	1	1305_1306	c.966_967GG>AC	c.(964-969)ttggag>ttACag	p.E323Q		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	323					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.L322F(3)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGCTTTTCTCCAAATCACACT	0.371000														89			46		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063832	15063833	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:15063832_15063833GG>AA	uc002naa.1	-	7	1413_1414	c.1406_1407CC>TT	c.(1405-1407)ccc>cTT	p.P469L	SLC1A6_uc010dzu.1_Missense_Mutation_p.P391L|SLC1A6_uc010xod.1_Missense_Mutation_p.P405L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	469					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate 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)	GACCCGCCTGGGGGATGCCAGC	0.604000														117			72		0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679378	27679378	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:27679378C>T	uc001mrv.3	-	1	1092	c.734G>A	c.(733-735)aGg>aAg	p.R245K	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Missense_Mutation_p.R245K|BDNF_uc010rdu.2_Missense_Mutation_p.R245K|BDNF_uc001mrt.3_Missense_Mutation_p.R260K|BDNF_uc010rdw.2_Missense_Mutation_p.R245K|BDNF_uc009yjd.3_Missense_Mutation_p.R245K|BDNF_uc001mru.3_Missense_Mutation_p.R245K|BDNF_uc010rdx.2_Missense_Mutation_p.R245K|BDNF_uc009yjf.3_Missense_Mutation_p.R274K|BDNF_uc010rdy.2_Missense_Mutation_p.R245K|BDNF_uc009yjg.3_Missense_Mutation_p.R245K|BDNF_uc009yje.3_Missense_Mutation_p.R327K|BDNF_uc001mrw.4_Missense_Mutation_p.R245K|BDNF_uc001mry.4_Missense_Mutation_p.R245K|BDNF_uc001mrz.4_Missense_Mutation_p.R245K|BDNF_uc001mrx.3_Missense_Mutation_p.R245K|BDNF_uc001msa.3_Missense_Mutation_p.R253K	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	245						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTATCTTCCCCTTTTAATGGT	0.338000														48			23		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702227	86702227	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:86702227C>T	uc002blz.1	+	3	400	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	107					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GTTATTACTCCTTACACCCGA	0.448000														52			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3205659	3205659	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:3205659C>T	uc022aqr.1	-	21	3719	c.3329G>A	c.(3328-3330)gGa>gAa	p.G1110E	CSMD1_uc011kwj.2_Missense_Mutation_p.G503E|CSMD1_uc003wqe.3_Missense_Mutation_p.G267E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1111	CUB 7.					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)		TCCTTCATTTCCTTTGACACT	0.343000														7			8		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709460	104709460	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:104709460G>C	uc003ylp.3	+	1	462	c.323G>C	c.(322-324)tGt>tCt	p.C108S		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	139	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.C108F(1)|p.C144F(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCATAACTGTTCATATTGC	0.428000										HNSCC(12;0.0054)				80			52		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571389	30571389	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:30571389C>T	uc003nqn.1	-	15	2179	c.1627G>A	c.(1627-1629)Ggt>Agt	p.G543S	PPP1R10_uc010jsc.1_Missense_Mutation_p.G197S	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	543	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GGTGAGCCACCTGACCCCCCA	0.532000														70			39		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55965624	55965624	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:55965624C>T	uc002adg.3	-	9	1845	c.1797G>A	c.(1795-1797)ctG>ctA	p.L599L	PRTG_uc002adh.3_Silent_p.L101L	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	599	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATGACTCTCCCAGCCCCACTC	0.478000														32			16		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61260157	61260157	+	Missense_Mutation	SNP	G	A	A	rs138290904		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:61260157G>A	uc010xep.2	+	4	619	c.451G>A	c.(451-453)Gat>Aat	p.D151N	SERPINB13_uc002ljc.3_Missense_Mutation_p.D142N|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_Intron|SERPINB13_uc010xer.2_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	142					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATGCAGCCGATGAAAGTCG	0.323000														45			21		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37524220	37524220	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:37524220A>C	uc002xje.3	+	3	523	c.334A>C	c.(334-336)Aac>Cac	p.N112H	PPP1R16B_uc010ggc.3_Missense_Mutation_p.N112H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	112					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.D111Y(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGCATCGACAACTTTGAGGA	0.612000														14			10		0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110764	207110764	+	Missense_Mutation	SNP	C	T	T	rs137917999		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:207110764C>T	uc001hez.3	-	3	905	c.721G>A	c.(721-723)Gag>Aag	p.E241K	PIGR_uc009xbz.3_Missense_Mutation_p.E241K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	241				E -> Q (in Ref. 6; AA sequence and 7; AA sequence).		extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCTCGGGCTCGGGCTTTAGC	0.552000														25			18		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64595853	64595853	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:64595853G>A	uc003jtp.3	-	9	2143	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.S64S	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	443	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGCAGACCAGGAAAAAGGAT	0.433000														14			10		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424859	113424859	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:113424859G>A	uc001tuj.3	+	1	334	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	OAS2_uc001tuh.3_Missense_Mutation_p.R65Q|OAS2_uc001tui.1_Missense_Mutation_p.R65Q	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	65	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCTATGGACGGAAAACAGTC	0.473000														48			26		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147964138	147964138	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:147964138C>T	uc003weu.2	+	20	3911	c.3395C>T	c.(3394-3396)cCt>cTt	p.P1132L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1132	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GATCATTATCCTTCTGTGAGT	0.458000										HNSCC(39;0.1)				38			50		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769436	37769437	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:37769436_37769437GG>AA	uc003asq.4	-	2	2924_2925	c.2138_2139CC>TT	c.(2137-2139)ccc>cTT	p.P713L	ELFN2_uc021wph.1_Missense_Mutation_p.P713L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTACAGGGCGGGAAAGCTGTG	0.708000														8			4		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29023224	29023224	+	Silent	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:29023224A>C	uc003xhh.4	-	11	1283	c.1224T>G	c.(1222-1224)acT>acG	p.T408T	KIF13B_uc003xhj.2_Silent_p.T305T|KIF13B_uc010lvf.1_Silent_p.T344T	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	408					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCCAGGTCACAGTCATTTCCT	0.443000														24			14		0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16677451	16677451	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:16677451C>T	uc010xph.2	-	3	666	c.648G>A	c.(646-648)cgG>cgA	p.R216R	MED26_uc002nee.2_Non-coding_Transcript|SLC35E1_uc002nem.1_Silent_p.R216R	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	216					transport	integral to membrane		p.R216C(1)|p.R216H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATGGTGGATCCGTGAATCTC	0.537000														48			47		0	0	1	0	0
RARRES2	5919	broad.mit.edu	37	7	150037535	150037535	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:150037535G>A	uc003wha.3	-	1	281	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	55					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTGTCCACGGCGCTCTCCAC	0.677000														9			3		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97607294	97607294	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:97607294C>T	uc010qoj.2	+	6	1004	c.941C>T	c.(940-942)aCc>aTc	p.T314I	ENTPD1_uc001kli.4_Missense_Mutation_p.T309I|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.T194I|ENTPD1_uc010qol.2_Missense_Mutation_p.T194I|ENTPD1_uc001klh.4_Missense_Mutation_p.T302I|ENTPD1_uc010qom.2_Intron|ENTPD1_uc010qon.2_Missense_Mutation_p.T164I|ENTPD1_uc009xva.3_Missense_Mutation_p.T164I	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	302					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCCCCTGCACCAAGAGATTT	0.438000														47			19		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54164541	54164541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:54164541G>A	uc002rxp.2	-	4	738	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	PSME4_uc010yop.1_Missense_Mutation_p.H114Y|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.H213Y	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	228					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAACCTTTATGATGAAGTTCT	0.323000														11			15		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617569	31617569	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:31617569G>A	uc011kae.2	+	7	781	c.769G>A	c.(769-771)Gag>Aag	p.E257K	CCDC129_uc011kad.1_Missense_Mutation_p.E241K|CCDC129_uc003tcj.1_Missense_Mutation_p.E231K|CCDC129_uc003tci.1_Missense_Mutation_p.E230K|CCDC129_uc003tck.1_Missense_Mutation_p.E139K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	231										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAGAGCTGAAGAGAAAGCTGG	0.493000														12			7		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189871685	189871685	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:189871685C>G	uc002uqj.1	+	43	3341	c.3224C>G	c.(3223-3225)gCt>gGt	p.A1075G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1075	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCTGCTGGTGCTCCCGGTCCT	0.398000														22			13		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958555	6958555	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:6958555G>A	uc002knm.3	-	54	7979	c.7885C>T	c.(7885-7887)Cca>Tca	p.P2629S	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.P82S|LAMA1_uc010wzj.2_Missense_Mutation_p.P2105S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2629	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCCTCTGGAATTCCCCCG	0.463000														14			13		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551343	125551344	+	Splice_Site	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:125551343_125551344CC>TT	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GGCAACTCCGCCCTTCCGGCTG	0.663000														29			31		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121638051	121638051	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:121638051G>A	uc003vjy.3	+	9	1626	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	PTPRZ1_uc011knt.2_Missense_Mutation_p.D411N|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D411N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	411					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D411Y(6)		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						CATGCCTACTGATAATCCTGG	0.348000														53			12		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324256	161324256	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:161324256T>A	uc010jiw.3	+	10	1667	c.1199T>A	c.(1198-1200)gTc>gAc	p.V400D	GABRA1_uc010jix.3_Missense_Mutation_p.V400D|GABRA1_uc010jiy.3_Missense_Mutation_p.V400D|GABRA1_uc003lyx.4_Missense_Mutation_p.V400D|GABRA1_uc010jiz.3_Missense_Mutation_p.V400D|GABRA1_uc010jja.3_Missense_Mutation_p.V400D|GABRA1_uc010jjb.3_Missense_Mutation_p.V400D	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	400					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCTAAAGAGGTCAAGCCCGAA	0.488000														66			6		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065041	9065041	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:9065041C>T	uc002mkp.3	-	2	22609	c.22405G>A	c.(22405-22407)Gag>Aag	p.E7469K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7471	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7468M(1)		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						TGAATTTTCTCCGTATCTGTG	0.483000														83			58		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401339	85401339	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:85401339C>T	uc002ble.3	+	5	4143	c.3976C>T	c.(3976-3978)Cct>Tct	p.P1326S		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1326					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGCAGCCCCTGGACAGGG	0.677000														11			11		0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167787877	167787877	+	Missense_Mutation	SNP	C	T	T	rs140641521	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:167787877C>T	uc003qvv.1	-	6	963	c.751G>A	c.(751-753)Gag>Aag	p.E251K	TCP10_uc003qvu.3_Missense_Mutation_p.E251K|TCP10_uc003qvw.3_3'UTR	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	278						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGGCGAACTCGTCAGCTTGA	0.542000														27			3		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46744583	46744583	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:46744583C>T	uc002eei.4	-	10	2349	c.2233G>A	c.(2233-2235)Gac>Aac	p.D745N	MYLK3_uc010vge.2_Missense_Mutation_p.D404N	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	745	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GAAACAAAGTCCTTGGCCTCC	0.507000														17			51		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163569	161163569	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:161163569G>C	uc001fyt.4	-	5	2024	c.1596C>G	c.(1594-1596)tgC>tgG	p.C532W		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	532	TSP type-1.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGTCCGAGAGCAGTCACCCC	0.622000														39			17		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24663144	24663144	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:24663144C>T	uc021oiw.1	+	3	669	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	GRHL3_uc001bix.3_Missense_Mutation_p.P147S|GRHL3_uc021oix.1_Missense_Mutation_p.P101S|GRHL3_uc001biy.3_Missense_Mutation_p.P152S|GRHL3_uc001biz.3_Missense_Mutation_p.P54S	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	147					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAAGGCAGCTCCCCTCCCTGC	0.567000														56			47		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669881	67669881	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:67669881C>T	uc001xja.2	+	3	520	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	77										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ATCTGTTTTTCCAGCTCCACC	0.473000														15			9		0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498564	4498564	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:4498564G>A	uc002fyf.1	+	4	998	c.931G>A	c.(931-933)Gag>Aag	p.E311K	SMTNL2_uc002fye.2_Missense_Mutation_p.E167K	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	311										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCGCACCTCGGAGGCGCAGGC	0.687000														18			15		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996237	73996237	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:73996237C>T	uc002avv.1	+	4	1205	c.971C>T	c.(970-972)tCc>tTc	p.S324F	CD276_uc010bjd.1_Missense_Mutation_p.S178F|CD276_uc002avu.1_Missense_Mutation_p.S324F|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.S270F	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	324	Ig-like V-type 2.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GGCAATGCATCCCTGAGGCTG	0.662000														19			8		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748792	43748792	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:43748792T>A	uc001zrs.3	-	11	2147	c.1999A>T	c.(1999-2001)Atc>Ttc	p.I667F	TP53BP1_uc010udp.2_Missense_Mutation_p.I667F|TP53BP1_uc001zrq.4_Missense_Mutation_p.I672F|TP53BP1_uc001zrr.4_Missense_Mutation_p.I672F|TP53BP1_uc010udq.1_Missense_Mutation_p.I672F	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	667					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			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)		GTCTCAGGGATTTCTTCCACC	0.463000								Other conserved DNA damage response genes						50			52		0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759583	6759583	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:6759583G>C	uc002wmu.1	+	2	1823	c.1038G>C	c.(1036-1038)caG>caC	p.Q346H		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	346					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCATTGTTCAGACGTTGGTCA	0.493000														17			13		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256516	24256516	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:24256516C>T	uc003xdz.2	+	8	1112	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	ADAMDEC1_uc010lub.2_Silent_p.L219L|ADAMDEC1_uc011lab.1_Silent_p.L219L	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	298	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAGTTCTAACCTGGGGAAAAA	0.512000														16			7		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73498378	73498378	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:73498378G>A	uc001jrx.4	+	32	4714	c.4324G>A	c.(4324-4326)Gac>Aac	p.D1442N	C10orf105_uc001jsb.2_5'Flank|CDH23_uc001jsc.1_Missense_Mutation_p.D252N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1445	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAGGCCTGGGACCCTGATGC	0.642000														12			8		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9804684	9804684	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:9804684C>T	uc003bst.3	-	4	528	c.343G>A	c.(343-345)Gag>Aag	p.E115K	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	115	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GCGTCCCGCTCCGTGTAGAAG	0.592000														23			7		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348569	150348569	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:150348569G>A	uc010ntg.2	+	1	652	c.514G>A	c.(514-516)Gat>Aat	p.D172N	GPR50_uc011myc.2_Missense_Mutation_p.D172N	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	172					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAGTACGATCCTCGCAC	0.527000														13			35		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55718307	55718307	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:55718307C>T	uc002qjq.3	-	2	175	c.102G>A	c.(100-102)agG>agA	p.R34R	PTPRH_uc010esv.3_Silent_p.R34R|PTPRH_uc002qjs.2_Silent_p.R41R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	34	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTCAGGTTCCTCCCTGGGT	0.572000														17			27		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86383274	86383274	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:86383274C>T	uc010sum.2	-	3	282	c.123G>A	c.(121-123)atG>atA	p.M41I	MGAT4C_uc001tal.4_Missense_Mutation_p.M17I|MGAT4C_uc001taj.4_Missense_Mutation_p.M17I|MGAT4C_uc001tak.4_Missense_Mutation_p.M17I|MGAT4C_uc001tai.4_Missense_Mutation_p.M17I|MGAT4C_uc001tah.4_Missense_Mutation_p.M17I	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	17					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.L41V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCAGGCATCTCATTTTATCAA	0.323000														17			8		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103249033	103249033	+	Missense_Mutation	SNP	G	A	A	rs62895363		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:103249033G>A	uc001tjq.1	-	5	1060	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PAH_uc010swc.1_Missense_Mutation_p.S196F	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	196					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTATACAAGGACTTCAGAGT	0.438000														8			11		0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122869163	122869163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:122869163G>A	uc003egc.2	+	13	1381	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	PDIA5_uc003egd.2_Non-coding_Transcript	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	409	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAACTTCCGGGAGACCCTGAA	0.602000														31			19		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90902107	90902107	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:90902107C>T	uc002bpk.4	+	2	315	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTGTAATCTCCCAGCCGGAGC	0.512000														16			8		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73915929	73915929	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:73915929G>A	uc002jqc.3	-	18	2187	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.S629L|FBF1_uc002jqd.1_Missense_Mutation_p.S639L|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_5'UTR	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	638										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTGCTGGTACGATGTTTCTAG	0.612000														26			28		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924574	166924575	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:166924574_166924575GG>AA	uc003irh.2	+	5	1311_1312	c.664_665GG>AA	c.(664-666)gga>AAa	p.G222K	TLL1_uc021xud.1_Missense_Mutation_p.G222K|TLL1_uc011cjn.2_Missense_Mutation_p.G222K|TLL1_uc011cjo.2_Missense_Mutation_p.G46K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	222	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCGAGGAAATGGACCTCAGGCA	0.446000														7			15		0	0	1	0	0
RER1	11079	broad.mit.edu	37	1	2327258	2327258	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:2327258C>T	uc001aje.2	+	1	220	c.29C>T	c.(28-30)tCc>tTc	p.S10F	RER1_uc001ajf.2_Missense_Mutation_p.S10F	NM_007033	NP_008964	O15258	RER1_HUMAN	Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.	10					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GTGGGAGAATCCGTCCATGGG	0.408000														23			11		0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36128155	36128155	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:36128155A>T	uc002oan.3	+	8	1307	c.1231A>T	c.(1231-1233)Aag>Tag	p.K411*	RBM42_uc002oap.3_Nonsense_Mutation_p.K381*|RBM42_uc002oaq.3_Nonsense_Mutation_p.K382*	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	411	Necessary for interaction with HNRNPK (By similarity).|RRM.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTAAGGCCAAGGTGATCCG	0.582000														19			25		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232746	100232746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:100232746G>A	uc003hus.4	-	6	980	c.896C>T	c.(895-897)tCc>tTc	p.S299F	ADH1B_uc003hut.4_Missense_Mutation_p.S259F|ADH1B_uc011ceh.2_Missense_Mutation_p.S144F|ADH1B_uc011cei.1_Missense_Mutation_p.S259F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	299					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAGGTTCTGGGAAGCAGGAGG	0.483000														62			37		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095432	124095432	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:124095432G>A	uc010saf.2	+	0	35	c.35G>A	c.(34-36)aGg>aAg	p.R12K		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	12						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACTGACCAAAGGAAAATGTCA	0.478000														15			7		0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677555	19677555	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:19677555G>A	uc002wrl.3	+	14	1803	c.1606_splice	c.e14+1	p.G536_splice		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	536						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCCAGACAAGGTGGGACTTC	0.617000														17			11		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62923294	62923294	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:62923294G>T	uc001daq.3	-	47	6296	c.6262C>A	c.(6262-6264)Cat>Aat	p.H2088N	DOCK7_uc001dan.3_Missense_Mutation_p.H1951N|DOCK7_uc001dao.3_Missense_Mutation_p.H1949N|DOCK7_uc001dap.3_Missense_Mutation_p.H2068N|DOCK7_uc001dam.3_Missense_Mutation_p.H1270N|DOCK7_uc010oov.1_Missense_Mutation_p.H829N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	2099	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|Rac GTPase binding|guanyl-nucleotide exchange factor activity			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						TTAAGGCGATGATAGTTTCTC	0.423000														43			56		2.23044e-30	2.29257e-30	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70527625	70527625	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:70527625C>T	uc001xly.3	-	2	2570	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Missense_Mutation_p.E606K|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Missense_Mutation_p.E606K|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	606	Calx-beta 2.				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)		TCGTATTCCTCCTCATCTACT	0.438000														16			14		0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189031	11189032	+	Missense_Mutation	DNP	CC	TT	TT	rs145037786		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:11189031_11189032CC>TT	uc003wtp.1	+	0	537_538	c.416_417CC>TT	c.(415-417)acc>aTT	p.T139I		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	139	DUF6 1.					integral to membrane											GGTTCTTCCACCGTATGCTCCG	0.574000														72			45		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140803044	140803045	+	Silent	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140803044_140803045CC>TT	uc003lkq.2	+	0	2508_2509	c.2250_2251CC>TT	c.(2248-2253)ttcctg>ttTTtg	p.750_751FL>FL	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.750_751FL>FL|PCDHGC5_uc003lkp.2_Intron|PCDHGB8P_uc011daz.2_5'Flank	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V751V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGGCTTTCCTGCAAACCTA	0.574000														42			23		0	0	1	0	0
REXO4	57109	broad.mit.edu	37	9	136282787	136282787	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:136282787G>C	uc004cdm.3	-	0	378	c.178C>G	c.(178-180)Cca>Gca	p.P60A	ADAMTS13_uc004cdp.4_Intron|REXO4_uc011mde.2_5'UTR|REXO4_uc011mdf.2_5'UTR|REXO4_uc004cdn.3_5'UTR	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	Homo sapiens REX4, RNA exonuclease 4 homolog (S. cerevisiae) (REXO4), mRNA.	60						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		GGTGCCTTTGGAGGTCGCACC	0.567000														23			49		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19413014	19413014	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:19413014G>A	uc010tcj.1	-	0		c.33096C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TGAAGTTAAAGAATAACCTGC	0.299000														4			55		0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424529	2424529	+	Silent	SNP	C	T	T	rs61741006		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:2424529C>T	uc021qcg.1	+	0	666	c.666C>T	c.(664-666)gtC>gtT	p.V222V	TSSC4_uc001lwi.3_Silent_p.V158V|TSSC4_uc001lwk.3_Silent_p.V222V|TSSC4_uc001lwl.3_Silent_p.V222V	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	222										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCGAGGGGTCGAAGCCAGAC	0.657000														19			10		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10261383	10261383	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:10261383C>T	uc003bve.1	+	7	999	c.923C>T	c.(922-924)cCc>cTc	p.P308L		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	308	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GACCCCCTCCCCTGGCCCCAG	0.562000														11			6		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030231	138030231	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:138030231C>T	uc002tva.1	+	10	2303	c.2303_splice	c.e10+1	p.R768_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Splice_Site_p.R658_splice	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTGTATATCGGCAAGTAGT	0.373000														8			6		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153896837	153896837	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:153896837G>A	uc003inf.2	+	10	2469	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	798					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCGGGGACCCGGAGGAAGGCG	0.627000														38			29		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652229	152652229	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:152652229C>T	uc021zhb.1	-	75	13814	c.13591G>A	c.(13591-13593)Gaa>Aaa	p.E4531K	SYNE1_uc003qot.4_Missense_Mutation_p.E4460K|SYNE1_uc003qou.4_Missense_Mutation_p.E4531K|SYNE1_uc010kiz.3_Missense_Mutation_p.E286K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4531					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCAGCACTTCACTCTTTTCC	0.463000										HNSCC(10;0.0054)				61			60		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116727	39116727	+	Silent	SNP	C	T	T	rs138568359		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:39116727C>T	uc002hvo.1	-	5	1059	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	KRT39_uc010wfm.1_Silent_p.T74T	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	341	Coil 2.|Rod.		T -> M (in dbSNP:rs17843021).			intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTCTGTCTCCGTTAGGATGC	0.498000														49			29		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176764412	176764412	+	Silent	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:176764412G>C	uc003mge.3	-	4	864	c.627C>G	c.(625-627)cgC>cgG	p.R209R		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	209	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCGTGATCGCGGTTGCGGA	0.662000														17			9		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27117662	27117662	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:27117662C>T	uc002ylx.4	+	2	369	c.219C>T	c.(217-219)atC>atT	p.I73I	GABPA_uc002yly.4_Silent_p.I73I	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	73					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						TGCAAGATATCCAGGTAATTT	0.318000														61			6		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52554068	52554068	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:52554068C>T	uc003dej.3	+	50	5418	c.5344C>T	c.(5344-5346)Ctg>Ttg	p.L1782L	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1782	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCAGGCCTGGCTGTACCATGA	0.622000														21			13		0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644384	169644384	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:169644384G>A	uc003fgd.3	+	5	601	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SAMD7_uc003fge.3_Missense_Mutation_p.E112K|SAMD7_uc011bpo.2_Missense_Mutation_p.E13K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	112										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAGGAGAATGGAAAAAATTAA	0.428000														23			13		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805577	39805578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:39805577_39805578GG>AA	uc002okw.2	-	0	399_400	c.399_400CC>TT	c.(397-402)ctccgc>ctTTgc	p.R134C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	134						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCAGGCCGCGGAGCTGGTCGC	0.708000														9			6		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735285	52735285	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:52735285G>A	uc001wzq.3	+	0	855	c.753G>A	c.(751-753)agG>agA	p.R251R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	251						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.G250E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGGACGGGAGGGAAGCGTCCC	0.667000														52			32		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074184	34074184	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:34074184G>A	uc002hjv.2	-	4	964	c.936C>T	c.(934-936)agC>agT	p.S312S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	312					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGTGAGCGGCTGATGGTCA	0.627000														63			39		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891549	132891549	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:132891549G>A	uc011eck.2	+	0	89	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	30						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTCTCGCCGGGATCCCGGGTG	0.517000														36			33		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87148690	87148690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:87148690C>T	uc003uiz.2	-	23	3372	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	ABCB1_uc011khc.2_Missense_Mutation_p.G896E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	960	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CAAGTAGGCTCCAAACCGGAA	0.383000														36			10		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206328787	206328788	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:206328787_206328788CC>TT	uc001hdu.3	+	6	972_973	c.854_855CC>TT	c.(853-855)tcc>tTT	p.S285F	CTSE_uc001hdv.3_Intron|CTSE_uc010prs.2_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	290					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACAGGGACTTCCCTCATCACTG	0.609000														32			13		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146480582	146480582	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:146480582G>A	uc010khw.1	+	2	1269	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GRM1_uc010khu.1_Missense_Mutation_p.E267K|GRM1_uc010khv.1_Missense_Mutation_p.E267K|GRM1_uc003qll.2_Missense_Mutation_p.E267K|GRM1_uc011edz.1_Missense_Mutation_p.E267K|GRM1_uc011eea.1_Missense_Mutation_p.E267K	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	267					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)	CAACGCTGGGGAGAAGAGCTT	0.547000														24			21		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746482	37746482	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:37746482G>A	uc004aag.1	+	15	4497	c.4453G>A	c.(4453-4455)Gag>Aag	p.E1485K	FRMPD1_uc004aah.1_Missense_Mutation_p.E1485K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1485						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCCCCGAAGAGATGCAGGG	0.637000														5			15		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44869865	44869865	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:44869865G>A	uc002xrm.2	-	1	686	c.287C>T	c.(286-288)gCc>gTc	p.A96V	CDH22_uc010ghk.1_Missense_Mutation_p.A96V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	96	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G95E(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTACTTGATGGCCCCGTCACC	0.597000														7			4		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74414511	74414512	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:74414511_74414512CC>TT	uc001ovh.3	-	7	1037_1038	c.784_785GG>AA	c.(784-786)ggg>AAg	p.G262K	CHRDL2_uc001ovg.3_Missense_Mutation_p.G146K|CHRDL2_uc001ovi.3_Missense_Mutation_p.G262K|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	262	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCACACCTCCCCGTGGGAGTAC	0.649000														10			6		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76463718	76463718	+	Missense_Mutation	SNP	C	T	T	rs147422598		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:76463718C>T	uc003yaq.3	+	4	607	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	HNF4G_uc003yar.3_Missense_Mutation_p.R150W	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	113					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGCTGAAGTTCGGTCTCGCCA	0.423000														27			5		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641890	99641890	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:99641890G>A	uc001yga.3	-	3	1550	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	BCL11B_uc001ygb.3_Missense_Mutation_p.S357L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	428						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAACTCGCACGACTTGCTCTT	0.677000			T	TLX3	T-ALL									6			5		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905637	3905637	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:3905637C>G	uc010xhz.2	+	4	843	c.360C>G	c.(358-360)aaC>aaG	p.N120K	ATCAY_uc002lyy.4_Missense_Mutation_p.N114K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	114					transport		protein binding	p.D120D(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAATGGCAACGAACTGGAGT	0.577000														73			22		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58563470	58563470	+	Silent	SNP	G	A	A	rs111628716		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:58563470G>A	uc010tro.2	-	5	2373	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	C14orf37_uc001xdc.3_Silent_p.L687L|C14orf37_uc001xdd.3_Silent_p.L687L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	687						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTTCCCACTCGAGGGCATCTG	0.512000														18			5		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702138	181702138	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:181702138G>A	uc009wxt.3	+	19	3111	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	CACNA1E_uc001gow.3_Silent_p.T972T|CACNA1E_uc009wxs.3_Silent_p.T953T|CACNA1E_uc001gox.1_Silent_p.T198T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	972					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T972T(3)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGAGCCAACGATCCAAGAAG	0.562000														17			13		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268772	45268772	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:45268772C>T	uc001cmn.3	+	6	995	c.895C>T	c.(895-897)Ccc>Tcc	p.P299S		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	299	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TCGGGCCTCACCCCGAGACCG	0.607000														45			18		0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288701	125288701	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:125288701C>G	uc004bmn.1	-	0	872	c.872G>C	c.(871-873)aGg>aCg	p.R291T		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCCTTGTTCCTTAGGCTATA	0.463000														4			10		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71149970	71149970	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:71149970G>A	uc001oqk.3	-	6	1036	c.786C>T	c.(784-786)ctC>ctT	p.L262L	DHCR7_uc001oql.3_Silent_p.L262L	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	262					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CATGGCTGTGGAGCTCCCGCT	0.612000									Smith-Lemli-Opitz syndrome					23			13		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830461	4830461	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:4830461C>T	uc003sne.3	+	15	2181	c.2096C>T	c.(2095-2097)aCc>aTc	p.T699I	AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Missense_Mutation_p.T176I|MIR4656_uc021zzb.1_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	699					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CAGGTGGTCACCGTGCTGATG	0.642000														8			5		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22398996	22398996	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:22398996C>T	uc001mqk.3	+	11	1872	c.1459C>T	c.(1459-1461)Cac>Tac	p.H487Y		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	487					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCCCTAGTCCACTATGGTGG	0.453000														13			12		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237522	29237522	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:29237522C>T	uc001wqe.3	+	0	1236	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	346					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCGTGTTGACTCAGAACTCG	0.647000														63			49		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542407	61542407	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:61542407A>G	uc002ydr.2	-	2	870	c.558T>C	c.(556-558)agT>agC	p.S186S	DIDO1_uc002yds.2_Silent_p.S186S|DIDO1_uc002ydt.2_Silent_p.S186S|DIDO1_uc002ydu.2_Silent_p.S186S|DIDO1_uc002ydv.2_Silent_p.S186S|DIDO1_uc002ydw.2_Silent_p.S186S|DIDO1_uc002ydx.2_Silent_p.S186S|DIDO1_uc011aao.1_Silent_p.S186S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	186					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCGCAGGCGACTCTGGATCC	0.637000														20			19		0	0	1	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151351	89151351	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:89151351G>A	uc021suc.1	+	0		c.14G>A								Homo sapiens microRNA 1179 (MIR1179), microRNA.																		TGGAAAGGAAGAAGCATTCTT	0.378000														62			36		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182636032	182636032	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:182636032G>A	uc010pnw.1	-	3	361	c.103C>T	c.(103-105)Cca>Tca	p.P35S	RGS8_uc001gpn.1_Missense_Mutation_p.P35S|RGS8_uc001gpm.1_Missense_Mutation_p.P53S	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	35					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTTGTCTGGAAGAATAGCT	0.502000														25			24		0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713427	102713427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:102713427C>T	uc001phj.1	-	1	391	c.326G>A	c.(325-327)tGg>tAg	p.W109*		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	109					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGTTTTCCTCCACTTCGGGAT	0.468000														33			12		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122735588	122735588	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:122735588G>A	uc001ucd.3	-	4	655	c.542C>T	c.(541-543)aCc>aTc	p.T181I	VPS33A_uc001ucc.3_Intron	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	181					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGCTTGCAGGGTCATCAGCCC	0.582000														33			20		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79588668	79588668	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:79588668G>A	uc001jzk.3	-	12	2331	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	DLG5_uc001jzj.3_Missense_Mutation_p.S509F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.S358F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	754	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CACAGCAAGGGACCCTTCTTT	0.567000														26			14		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701731	81701731	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:81701731G>A	uc001kbh.3	-	4	572	c.529C>T	c.(529-531)Cct>Tct	p.P177S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	177	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GTGTTTCCAGGGACTCCACGC	0.637000														48			25		0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151742727	151742727	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:151742727G>A	uc010pdm.2	+	4	626	c.556G>A	c.(556-558)Gac>Aac	p.D186N	OAZ3_uc010pdl.2_Missense_Mutation_p.D142N|TDRKH_uc001eyy.2_3'UTR	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	139					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity	p.N185N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TGATCGGAACGACAGAGGTGG	0.473000														78			40		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552303	100552304	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:100552303_100552304CC>TT	uc003uxl.1	+	0	1554_1555	c.754_755CC>TT	c.(754-756)ccc>TTc	p.P252F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACTTCTCCTCCCACCACCCCA	0.465000														300			16		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773198	34773198	+	Silent	SNP	C	T	T	rs142551778	byFrequency	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:34773198C>T	uc002xfb.3	+	6	897	c.726C>T	c.(724-726)ttC>ttT	p.F242F	EPB41L1_uc002xeu.3_Silent_p.F180F|EPB41L1_uc010zvo.1_Silent_p.F242F|EPB41L1_uc002xev.3_Silent_p.F242F|EPB41L1_uc002xew.3_Silent_p.F145F|EPB41L1_uc002xex.3_Silent_p.F211F|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.F180F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	242	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGCTCCGCTTCGCCCCTAACC	0.592000														15			8		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449866	91449866	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:91449866C>T	uc001tbl.3	-	1	812	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	65	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCAGGAATTTCTTTGAGACCT	0.388000														21			17		0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34207659	34207659	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:34207659C>T	uc002xdb.1	+	9	1185	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SPAG4_uc010zvi.1_Silent_p.F279F	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	356	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCGCGATTTCGCGGTCTTTG	0.617000														19			16		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001583	172001583	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:172001583G>A	uc001gie.3	+	4	807	c.631G>A	c.(631-633)Gat>Aat	p.D211N	DNM3_uc001gid.4_Missense_Mutation_p.D211N|DNM3_uc009wwb.2_Missense_Mutation_p.D211N|DNM3_uc001gif.3_Missense_Mutation_p.D211N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	211					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGACCTTATGGATGAAGGAAC	0.383000														38			29		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123286354	123286354	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:123286354C>A	uc001udc.3	+	8	1823	c.1661C>A	c.(1660-1662)aCc>aAc	p.T554N	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.T315N|CCDC62_uc021rfn.1_Missense_Mutation_p.T369N	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	554						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TCTGGGTGCACCTGTTCAGAA	0.488000														140			86		6.00224e-42	6.18132e-42	1	1	0
SLC35C2	51006	broad.mit.edu	37	20	44986361	44986361	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:44986361G>C	uc010zxp.2	-	3	352	c.259C>G	c.(259-261)Ctc>Gtc	p.L87V	SLC35C2_uc002xro.3_Missense_Mutation_p.L58V|SLC35C2_uc002xrp.3_Missense_Mutation_p.L58V|SLC35C2_uc002xrq.3_Missense_Mutation_p.L58V|SLC35C2_uc002xrr.3_Missense_Mutation_p.L58V|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Intron	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	58					transport	integral to membrane		p.R86I(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCGGAGAAGAGGAAGATCACG	0.617000														31			19		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089806	50089806	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:50089806G>A	uc004dox.4	+	10	4108	c.3810_splice	c.e10+1	p.R1270_splice	CCNB3_uc004doy.3_Splice_Site_p.R1270_splice|CCNB3_uc004doz.3_Splice_Site_p.R166_splice|CCNB3_uc010njq.3_Splice_Site_p.R162_splice|CCNB3_uc004dpa.3_Splice_Site_p.R109_splice	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1270					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATATGCTAGGGTAAGAGAGA	0.463000														10			5		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108135721	108135721	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:108135721C>T	uc003dxa.1	-	29	4003	c.3946G>A	c.(3946-3948)Gaa>Aaa	p.E1316K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1316						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1315M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGCTCTTTTCCCTGGAAAGT	0.418000														39			21		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578692	58578692	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:58578692C>T	uc002qrg.3	+	3	915	c.912C>T	c.(910-912)aaC>aaT	p.N304N	ZNF135_uc002qre.3_Silent_p.N280N|ZNF135_uc002qrf.3_Silent_p.N238N|ZNF135_uc010yhq.2_Silent_p.N292N|ZNF135_uc010yhr.2_Silent_p.N101N|ZNF135_uc002qrd.2_Silent_p.N292N|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	292					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GGACCTTCAACCAAATTGCCC	0.493000														51			58		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184859248	184859248	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:184859248G>A	uc001gra.3	-	3	621	c.427C>T	c.(427-429)Cct>Tct	p.P143S	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	143					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACCAAGAGGGTCTGGGAAA	0.458000														13			11		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12938612	12938612	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:12938612G>A	uc004cvd.3	+	2	1677	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.A485T	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	485					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTATGGAAAAGCCTTAGATTT	0.393000														31			24		0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10280488	10280489	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:10280488_10280489CC>TT	uc003bve.1	+	11	1606_1607	c.1530_1531CC>TT	c.(1528-1533)ctccct>ctTTct	p.P511S		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	511					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGACGTTGCTCCCTTGGAGTGG	0.559000														45			25		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031450	33031450	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:33031450G>A	uc001rlj.4	-	2	479	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	PKP2_uc001rlk.4_Missense_Mutation_p.R122C|PKP2_uc010skj.2_Missense_Mutation_p.R122C	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	122					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTCCCCAGCGACCTTCATAA	0.478000														104			68		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14535325	14535325	+	Missense_Mutation	SNP	C	G	G	rs79010943	byFrequency	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:14535325C>G	uc021wtn.1	-	25	3268	c.3268G>C	c.(3268-3270)Gtc>Ctc	p.V1090L	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	994					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTGTACGGACGTGGTTGACC	0.607000														10			14		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975202	44975202	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:44975202G>A	uc001wvn.3	-	0	1298	c.989C>T	c.(988-990)cCt>cTt	p.P330L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	330	Pro-rich.					cilium		p.P330S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AATTTCAGCAGGAAACTCCAC	0.512000														27			14		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74646089	74646089	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:74646089C>G	uc011cst.2	+	7	982	c.730C>G	c.(730-732)Cgg>Ggg	p.R244G	HMGCR_uc003kdp.3_Missense_Mutation_p.R224G|HMGCR_uc003kdq.3_Missense_Mutation_p.R224G|HMGCR_uc010izn.1_Intron	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	224					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GTAGCTTTCTCGGGAAAGCCG	0.418000														12			7		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360397	55360397	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:55360397C>T	uc003pcn.3	-	7	864	c.705G>A	c.(703-705)aaG>aaA	p.K235K	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.K205K|HMGCLL1_uc010jzx.3_Silent_p.K106K|HMGCLL1_uc011dxc.2_Silent_p.K173K|HMGCLL1_uc011dxd.2_Silent_p.K102K	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	235							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CGTACAATCTCTTAGACACCT	0.388000														21			17		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37396594	37396594	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:37396594C>T	uc003jkv.3	+	4	472	c.414C>T	c.(412-414)atC>atT	p.I138I	WDR70_uc010iva.1_Silent_p.I138I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	138										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGATATCCTCGGTCCTT	0.403000														16			17		0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47587798	47587799	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:47587798_47587799GG>AA	uc002ioz.4	+	3	718_719	c.593_594GG>AA	c.(592-594)cgg>cAA	p.R198Q		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	198	Ser/Thr-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGGATTACACGGTCCACACCCC	0.619000														41			19		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256794	63256794	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:63256794C>T	uc011cqt.2	-	0	753	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	251					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)	TCACACTCTTCTTGGGCTGCG	0.642000														34			22		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11583189	11583189	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:11583189G>C	uc002gne.3	+	17	3537	c.3469G>C	c.(3469-3471)Gaa>Caa	p.E1157Q	DNAH9_uc010coo.3_Missense_Mutation_p.E451Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1157	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGTTAAAGAACGGCAGAG	0.408000														41			24		0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232393194	232393194	+	Nonsense_Mutation	SNP	G	A	A	rs141278960		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:232393194G>A	uc002vry.4	-	1	648	c.538C>T	c.(538-540)Cga>Tga	p.R180*		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	180					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAAGCACTCGGCGCACATGG	0.687000														7			16		0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708319	29708319	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:29708319C>T	uc003afa.1	+	6	2075	c.1876C>T	c.(1876-1878)Ccc>Tcc	p.P626S	GAS2L1_uc010gvm.1_Missense_Mutation_p.P400S|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.P626S|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	627					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TTGCACTGAACCCTCGAGGAC	0.697000														31			26		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686796	54686796	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:54686796C>T	uc009znk.3	-	1	994	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	NFE2_uc001sfq.3_Missense_Mutation_p.G162R|NFE2_uc001sfr.4_Missense_Mutation_p.G162R|NFE2_uc009znl.3_Missense_Mutation_p.G162R	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	162	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GCCTCTGTCCCCTCCAGCTCA	0.557000														69			32		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205277762	205277762	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:205277762C>T	uc001hce.3	-	2	578	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NUAK2_uc009xbj.1_Missense_Mutation_p.E23K	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	151	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCTAGCTTCGCGCTCACTG	0.562000														28			18		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297015	44297015	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:44297015G>A	uc001myb.3	-	1	764	c.660C>T	c.(658-660)acC>acT	p.T220T		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	220					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGCTGGTGAAGGTGGTCCGGT	0.622000														74			61		0	0	1	0	0
CD3G	917	broad.mit.edu	37	11	118221328	118221328	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:118221328C>T	uc001psu.2	+	3	449	c.369C>T	c.(367-369)atC>atT	p.I123I	CD3G_uc009zaa.1_Silent_p.I63I	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	123					T cell activation|T cell costimulation|T cell receptor signaling pathway|establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis	T cell receptor complex|integral to plasma membrane	T cell receptor binding|protein heterodimerization activity|receptor signaling complex scaffold activity|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGCTGAAATCGTCAGCATTT	0.463000														38			16		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126236519	126236519	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:126236519G>A	uc010hsi.2	-	0	98	c.44C>T	c.(43-45)cCc>cTc	p.P15L	UROC1_uc003eiz.2_Missense_Mutation_p.P15L	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	15					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTCTGGGAGGGGCCGCAGGGG	0.677000														6			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262838	140262838	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140262838C>T	uc003lif.2	+	0	985	c.985C>T	c.(985-987)Cca>Tca	p.P329S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P329S|PCDHAC2_uc003lid.3_Missense_Mutation_p.P329S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAATATTCCAATGGCGGG	0.398000														31			11		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138440507	138440507	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:138440507C>T	uc004cgc.3	+	4	449	c.407C>T	c.(406-408)gCc>gTc	p.A136V	OBP2A_uc004cgb.3_Intron|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Silent_p.G91G			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCCTGCAGGGCCGTGCCGCTG	0.612000														0			5		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30746296	30746296	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:30746296C>T	uc002wxj.2	+	14	1783	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	TM9SF4_uc010zts.1_Silent_p.I423I|TM9SF4_uc002wxk.2_Silent_p.I499I	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	516						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCATGTTCATCGAGCTCTTCT	0.592000														30			24		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103295	52103296	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:52103295_52103296GG>AA	uc001jje.3	-	6	1533_1534	c.579_580CC>TT	c.(577-582)atcctt>atTTtt	p.L194F	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.L194F|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.L194F|SGMS1_uc021pqo.1_Missense_Mutation_p.L194F|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	200					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGTCCTACAAGGATCATGCCAT	0.411000														10			14		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113231323	113231323	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:113231323C>T	uc010mtz.3	-	16	3394	c.3057G>A	c.(3055-3057)cgG>cgA	p.R1019R	SVEP1_uc010mua.1_Silent_p.R1019R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1019					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGGATCCGATCCGGCAGCTTT	0.418000														15			17		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201287848	201287848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:201287848G>A	uc001gwd.3	+	5	1408	c.1157G>A	c.(1156-1158)tGg>tAg	p.W386*	PKP1_uc001gwe.3_Nonsense_Mutation_p.W386*|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	386					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TTCTCTGGCTGGTGCGATGGC	0.572000														11			9		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131971257	131971257	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:131971257G>T	uc003qcu.4	+	3	592	c.245G>T	c.(244-246)tGc>tTc	p.C82F	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.C48F|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.C82F|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	82	SMB 1.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGTGATTGCTGCTGGGATTTT	0.403000														53			24		7.92952e-12	8.07287e-12	1	1	0
PPP1R16A	84988	broad.mit.edu	37	8	145724154	145724155	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:145724154_145724155CC>TT	uc003zdd.3	+	2	1174_1175	c.261_262CC>TT	c.(259-264)gtccgc>gtTTgc	p.R88C	AK094577_uc003zde.1_Intron|PPP1R16A_uc003zdf.3_Missense_Mutation_p.R88C	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	88						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTTGCAGTCCGCCAGTTCCT	0.649000														37			4		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624373	123624373	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:123624373G>A	uc010rzy.2	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATAAATAAAGGGATTCAGAAG	0.423000														49			26		0	0	1	0	0
ABCB9	23457	broad.mit.edu	37	12	123425463	123425464	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:123425463_123425464GG>AA	uc001udm.4	-	7	1769_1770	c.1459_1460CC>TT	c.(1459-1461)ccg>TTg	p.P487L	ABCB9_uc021rfo.1_Missense_Mutation_p.P487L|ABCB9_uc021rfp.1_Missense_Mutation_p.P487L|ABCB9_uc010tai.2_Missense_Mutation_p.P94L|ABCB9_uc001udo.4_Missense_Mutation_p.P444L|ABCB9_uc010taj.2_Intron|ABCB9_uc001udq.3_Intron|ABCB9_uc021rfq.1_Missense_Mutation_p.P487L|ABCB9_uc001udr.3_Missense_Mutation_p.P487L	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	487					positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCATGGTCGGCTGCCGGTCG	0.644000														8			3		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929197	50929197	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:50929197G>A	uc002lfe.2	+	18	3485	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	DCC_uc010xdr.1_Missense_Mutation_p.E785K|DCC_uc010dpf.2_Missense_Mutation_p.E592K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	957	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CATTACTAGGGAAGGGAAGCC	0.493000														39			22		0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133496736	133496736	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:133496736G>A	uc003kzc.4	-	3	436	c.257C>T	c.(256-258)cCt>cTt	p.P86L	SKP1_uc003kzd.4_Missense_Mutation_p.P86L	NM_170679	NP_733779	P63208	SKP1_HUMAN	Homo sapiens S-phase kinase-associated protein 1 (SKP1), transcript variant 2, mRNA.	86					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleoplasm	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCCCAAACAGGGATATCATC	0.418000														9			10		0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122260	82122260	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:82122260G>A	uc001kca.1	+	2	441	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.V21M	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	21							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ACTGGCAGAGGTGGCGAAGGT	0.478000														15			14		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43304963	43304963	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:43304963C>T	uc003oux.3	-	9	6851	c.6773G>A	c.(6772-6774)gGa>gAa	p.G2258E	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2258					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.Q2257E(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCAGGCATTCCCTGAGGGAC	0.468000														17			14		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534849	50534849	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:50534849G>A	uc001zxz.3	-	11	1939	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	HDC_uc001zxy.3_Missense_Mutation_p.P276S|HDC_uc010uff.2_Missense_Mutation_p.P500S	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	533					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.G532D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTTTCATGGGACCGGCTCCC	0.567000														38			17		0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026358	1026358	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:1026358G>A	uc003sjq.1	+	4	757	c.744G>A	c.(742-744)ctG>ctA	p.L248L	CYP2W1_uc003sjr.1_Silent_p.L248L	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily W, polypeptide 1 (CYP2W1), mRNA.	248					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGACCCTCCTGGAGGCGCGGA	0.672000														17			11		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62393362	62393362	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:62393362G>A	uc001nua.3	-	24	2859	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	GANAB_uc001nub.3_Silent_p.D920D|GANAB_uc001nuc.3_Silent_p.D823D|GANAB_uc010rma.2_Silent_p.D828D|GANAB_uc010rmb.2_Silent_p.D806D	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	920					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGGTCTCAGGGTCATGCTGGA	0.507000														20			11		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130025062	130025062	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:130025062C>T	uc003vpx.3	+	7	935	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CPA1_uc003vpw.2_Missense_Mutation_p.S122F	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	288					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAGGTCAAGTCCATTGTAGAC	0.537000														26			25		0	0	1	0	0
PPA1	5464	broad.mit.edu	37	10	71973281	71973282	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:71973281_71973282CC>TT	uc001jqv.1	-	5	555_556	c.448_449GG>AA	c.(448-450)ggg>AAg	p.G150K		NM_021129	NP_066952	Q15181	IPYR_HUMAN	Homo sapiens pyrophosphatase (inorganic) 1 (PPA1), mRNA.	150					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						GTCGGTTTCCCCTTCGTCAATC	0.386000														32			26		0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102248885	102248885	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:102248885A>G	uc001pgy.3	+	8	3227	c.1828A>G	c.(1828-1830)Aag>Gag	p.K610E	BIRC2_uc010ruq.2_Missense_Mutation_p.K561E|BIRC2_uc010rur.2_Missense_Mutation_p.K610E	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	610					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGGTATAATCAAGGGTACTGT	0.353000														14			14		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901688	159901688	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:159901688C>T	uc001fur.2	-	10	1474	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IGSF9_uc001fuq.2_Missense_Mutation_p.E410K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	426	Ig-like 5.					cell junction|integral to membrane|synapse		p.S425S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATATTCTTCCTTGGGCCGC	0.577000														36			14		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44110530	44110530	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:44110530G>A	uc002ikc.3	-	12	3224	c.2753C>T	c.(2752-2754)gCc>gTc	p.A918V	KANSL1_uc002ikd.3_Missense_Mutation_p.A918V|KANSL1_uc010dav.3_Missense_Mutation_p.A917V|KANSL1_uc010wkb.2_Missense_Mutation_p.A249V|KANSL1_uc010wkc.2_Missense_Mutation_p.A186V	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	918						MLL1 complex	protein binding										ATGCAGGGCGGCGAAGGCTGC	0.597000														2			3		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176016051	176016051	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:176016051G>A	uc021yie.1	+	21	3150	c.2876G>A	c.(2875-2877)gGg>gAg	p.G959E	CDHR2_uc003mem.2_Missense_Mutation_p.G959E|CDHR2_uc003men.1_Missense_Mutation_p.G959E	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	959	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATGATTCAGGGAACAATGGC	0.582000														91			52		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25235700	25235700	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:25235700G>A	uc002doc.3	+	3	487	c.405G>A	c.(403-405)gaG>gaA	p.E135E		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	135					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GTCCTGAGGAGAGGTTCTGGA	0.607000														11			6		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207085	121207085	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:121207085G>A	uc003eee.4	-	15	4822	c.4693C>T	c.(4693-4695)Cag>Tag	p.Q1565*	POLQ_uc003eed.3_Nonsense_Mutation_p.Q737*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1565					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCAACCATCTGAACAGAATCC	0.343000								DNA polymerases (catalytic subunits)						27			20		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441035	37441035	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:37441035T>A	uc021ppc.1	+	11	1624	c.1525T>A	c.(1525-1527)Tct>Act	p.S509T	ANKRD30A_uc001iza.1_Missense_Mutation_p.S509T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAGAAAATTCTTGGGATTC	0.318000														21			14		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179437748	179437748	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:179437748C>T	uc001gmo.3	+	16	2356	c.1969C>T	c.(1969-1971)Cca>Tca	p.P657S	AXDND1_uc001gmn.2_3'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.P615S	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	657										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGGTATTGTTCCACAGCACAT	0.333000														25			9		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27202972	27202972	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:27202972G>A	uc011lno.2	+	11	2377	c.1935G>A	c.(1933-1935)aaG>aaA	p.K645K	TEK_uc003zqi.4_Silent_p.K688K|TEK_uc011lnp.2_Silent_p.K541K|TEK_uc003zqj.1_Silent_p.K622K	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	688	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTGATGTGAAGATAAAGAATG	0.423000														24			40		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366636	220366636	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:220366636C>T	uc002vlv.3	+	4	681	c.306C>T	c.(304-306)atC>atT	p.I102I	GMPPA_uc002vlr.3_Silent_p.I102I	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	102					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GAGACCAGATCCTGGCTGGGA	0.597000														56			34		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47855922	47855922	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:47855922C>T	uc002zji.4	+	38	8964	c.8857C>T	c.(8857-8859)Cac>Tac	p.H2953Y	PCNT_uc002zjj.3_Missense_Mutation_p.H2756Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2953					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCCGCCTCCACCTAGGTTC	0.632000														67			38		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54661851	54661851	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:54661851G>A	uc003dhf.3	+	9	1049	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G240E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G68E	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	334	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCGCCAAAGGAATTGGAATG	0.418000														2			6		0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166021932	166021932	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:166021932A>C	uc003iqz.4	-	2	386	c.287T>G	c.(286-288)aTa>aGa	p.I96R		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	Homo sapiens transmembrane protein 192 (TMEM192), mRNA.	96						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCCAAGGATTATAACCGTCTG	0.383000														10			27		0	0	1	0	0
OSCP1	127700	broad.mit.edu	37	1	36888436	36888436	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:36888436C>T	uc001caq.3	-	5	798	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	OSCP1_uc021olk.1_Missense_Mutation_p.V238I	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	238					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						GGTGCAGGGACATAGTTTCCA	0.393000														33			26		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24193072	24193072	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:24193072C>T	uc003xdy.3	+	13	1568	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	ADAM28_uc003xdx.3_Silent_p.F495F|ADAM28_uc011kzz.2_Silent_p.F262F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.F182F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	495	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G494V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAATGGCTTCCCTTGCCATC	0.522000														13			8		0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144402	3144402	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:3144402C>T	uc002fvf.3	+	0	433	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		TGTCTTGCTCCTCTCCTTGTG	0.577000														14			4		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380729	78380729	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:78380729C>T	uc001ozl.4	-	31	7124	c.6661G>A	c.(6661-6663)Ggg>Agg	p.G2221R	ODZ4_uc001ozk.4_Missense_Mutation_p.G446R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2221					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCAGGTTCCCATTGAGGTCG	0.552000														54			36		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230450605	230450605	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:230450605C>T	uc002vpv.3	-	3	963	c.816G>A	c.(814-816)gaG>gaA	p.E272E	DNER_uc010zly.1_5'UTR	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	272					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AGGCGAGCATCTCCTCCAGGA	0.502000														18			7		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413186	178413186	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:178413186G>A	uc003mjr.3	-	7	2248	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P273L|GRM6_uc003mjs.1_Missense_Mutation_p.P310L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	690					detection of visible light|visual perception	integral to plasma membrane		p.P689T(1)|p.P690A(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTGATGAAGGGAGGGGGTGT	0.642000														7			4		0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362614	153362614	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:153362614G>A	uc001fbs.3	-	2	417	c.247C>T	c.(247-249)Cac>Tac	p.H83Y		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	83				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTTTTTGTGGGCTGCCACG	0.483000														48			37		0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957798	152957798	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152957798A>G	uc021ozn.1	+	0	92	c.92A>G	c.(91-93)gAa>gGa	p.E31G	SPRR1A_uc009wnu.2_Missense_Mutation_p.E31G|SPRR1A_uc001faw.3_Missense_Mutation_p.E31G	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	31	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACCCCAGGAACCATGCATC	0.612000														60			44		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092783	53092783	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:53092783A>T	uc003xqz.2	-	3	332	c.176T>A	c.(175-177)aTg>aAg	p.M59K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.M24K|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.M59K|ST18_uc003xrb.2_Missense_Mutation_p.M59K|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	59						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)				TCGGGGCTTCATTAGCAGGGA	0.507000														66			30		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56702302	56702302	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:56702302G>A	uc010ygh.2	-	2	643	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	215					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGGGTCTCGGAGAGTTTGGG	0.502000														60			25		0	0	1	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822383	103822383	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:103822383G>A	uc003hww.3	-	11	1581	c.1439C>T	c.(1438-1440)aCa>aTa	p.T480I	SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.T253I	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	480						integral to membrane	solute:hydrogen antiporter activity										ATTTGGAGCTGTGATCAAGAT	0.443000														144			16		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27202969	27202969	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:27202969G>A	uc011lno.2	+	11	2374	c.1932G>A	c.(1930-1932)gtG>gtA	p.V644V	TEK_uc003zqi.4_Silent_p.V687V|TEK_uc011lnp.2_Silent_p.V540V|TEK_uc003zqj.1_Silent_p.V621V	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	687	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACGTTGATGTGAAGATAAAGA	0.423000														25			41		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55085884	55085884	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:55085884G>A	uc010ern.3	+	3	656	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	LILRA1_uc002qgg.4_Missense_Mutation_p.E63K|LILRA1_uc002qgf.3_Missense_Mutation_p.E63K|LILRA1_uc010yfe.1_Missense_Mutation_p.E63K|LILRA1_uc010yff.1_Missense_Mutation_p.E51K|LILRA1_uc010ero.3_Missense_Mutation_p.E51K|LILRA1_uc010yfg.1_Missense_Mutation_p.E63K			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	63	Ig-like C2-type 1.				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)		TCTATATAGGGAAAACAAATC	0.557000														18			41		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57597027	57597027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:57597027G>A	uc001snd.3	+	68	11241	c.10775G>A	c.(10774-10776)tGg>tAg	p.W3592*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3592	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			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)	GCGGGGCGCTGGAAATGCGAT	0.667000														13			3		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453617	74453617	+	Missense_Mutation	SNP	G	A	A	rs142555062		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:74453617G>A	uc003hhd.1	-	4	541	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	RASSF6_uc003hhc.1_Missense_Mutation_p.R108C|RASSF6_uc010iik.1_Missense_Mutation_p.R108C|RASSF6_uc010iil.1_Missense_Mutation_p.R96C	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	140					apoptosis|signal transduction		protein binding	p.R140C(2)|p.R140H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCACTAATACGATAGAGATCG	0.383000														27			33		0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50957676	50957676	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:50957676A>G	uc003blx.4	+	8	910	c.788A>G	c.(787-789)gAg>gGg	p.E263G	NCAPH2_uc003blq.4_Missense_Mutation_p.E263G|NCAPH2_uc003blv.3_Missense_Mutation_p.E263G|NCAPH2_uc003blr.4_Missense_Mutation_p.E263G	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	263					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GATGCAGAGGAGGCAGTAGAG	0.667000														5			4		0	0	1	0	0
CERS3	204219	broad.mit.edu	37	15	101042017	101042017	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:101042017C>T	uc002bwa.3	-	4	642	c.71G>A	c.(70-72)aGa>aAa	p.R24K	CERS3_uc002bvz.3_Missense_Mutation_p.R13K|CERS3_uc002bwb.3_Missense_Mutation_p.R13K	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	13						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AAGCCAGAATCTTTCCAACCA	0.373000														22			48		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134709067	134709067	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:134709067A>G	uc004eyw.4	+	12	2052	c.1689A>G	c.(1687-1689)acA>acG	p.T563T	DDX26B_uc004eyx.4_Silent_p.T164T	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	563										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGAAGACATTGGCTTCTC	0.408000														15			47		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28928132	28928132	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:28928132C>T	uc003xhh.4	-	39	5429	c.5370G>A	c.(5368-5370)cgG>cgA	p.R1790R	KIF13B_uc011laz.2_Silent_p.R309R	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1790					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GGGTGGCGCTCCGGCGGGCCT	0.731000														2			3		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011501	21011501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:21011501G>A	uc010sil.2	+	2	420	c.355G>A	c.(355-357)Gga>Aga	p.G119R	SLCO1B3_uc001rek.3_Missense_Mutation_p.G119R|SLCO1B3_uc001rel.3_Missense_Mutation_p.G119R|SLCO1B3_uc010sim.2_Missense_Mutation_p.G119R			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	119					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)					TTTCTTCATGGGATAGTAAGT	0.338000														30			11		0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54557288	54557288	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:54557288T>C	uc003jpx.3	-	24	3988	c.3868A>G	c.(3868-3870)Ata>Gta	p.I1290V	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	1290							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAAGGGGTTATTAGGGTAGTT	0.363000														43			20		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6681979	6681979	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:6681979C>T	uc002mfm.3	-	34	4385	c.4323G>A	c.(4321-4323)agG>agA	p.R1441R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1441	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGAGGGTGTTCCTATCGGAGA	0.532000														68			63		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257344	1257344	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:1257344C>T	uc002cks.3	+	13	3225	c.2977C>T	c.(2977-2979)Ctc>Ttc	p.L993F	CACNA1H_uc002ckt.3_Missense_Mutation_p.L993F|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	993					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGGGCCGCCCTCTACTTCGT	0.647000														10			5		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611525	17611525	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:17611525C>T	uc002ngu.1	+	9	1526	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	SLC27A1_uc010xpp.1_Silent_p.D313D|SLC27A1_uc002ngv.1_Silent_p.D94D	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	492					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.D492E(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGCCAGGTGACGTGCTAGTGA	0.657000														40			9		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43325928	43325929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:43325928_43325929GG>AA	uc002yzw.3	-	10	1578_1579	c.1336_1337CC>TT	c.(1336-1338)ccc>TTc	p.P446F	C2CD2_uc002yzt.3_Missense_Mutation_p.P62F|C2CD2_uc002yzu.3_Missense_Mutation_p.P278F|C2CD2_uc002yzv.3_Missense_Mutation_p.P291F|C2CD2_uc002yzx.1_Missense_Mutation_p.P291F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	446						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACCTTGATGGGAGTCTTCACC	0.545000														14			9		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930856	184930856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:184930856C>T	uc003ivz.1	+	2	2300	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	289					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTTTTCTGCCCAGTTTCCTCC	0.458000														2			7		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16627740	16627740	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:16627740G>A	uc004cxk.3	-	16	2359	c.1615C>T	c.(1615-1617)Ccg>Tcg	p.P539S	CTPS2_uc004cxl.3_Missense_Mutation_p.P539S|CTPS2_uc004cxm.3_Missense_Mutation_p.P539S	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	539	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCCAGATACGGAGGGGAAGGC	0.468000														22			14		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520099	113520099	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:113520099G>A	uc010ljy.1	-	3	1079	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	350					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTATTTGGAAAATTGACT	0.373000														48			57		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991463	21991463	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:21991463C>A	uc002nqj.3	-	3	1506	c.1376G>T	c.(1375-1377)tGt>tTt	p.C459F	ZNF43_uc002nql.3_Missense_Mutation_p.C453F|ZNF43_uc002nqm.3_Missense_Mutation_p.C453F|ZNF43_uc010ecv.3_Missense_Mutation_p.C453F|ZNF43_uc002nqk.3_Missense_Mutation_p.C389F	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGCTTTGCCACATACTTCACA	0.383000														39			29		1.32181e-22	1.35473e-22	1	1	0
CACNG5	27091	broad.mit.edu	37	17	64881234	64881234	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:64881234C>T	uc010wqi.2	+	5	942	c.705C>T	c.(703-705)gaC>gaT	p.D235D	CACNG5_uc010wqj.2_Silent_p.D235D	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	235				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TACACCCAGACGCCTGGGTCA	0.637000														36			20		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260646	45260646	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:45260646G>C	uc010xxe.2	+	4	857	c.787G>C	c.(787-789)Gag>Cag	p.E263Q		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	263					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.E255Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GCTCTTGCTAGAGCGCGGTGC	0.687000			T	IGH@	CLL									9			7		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883451	7883451	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:7883451G>A	uc001qtg.1	-	4	613	c.439C>T	c.(439-441)Cca>Tca	p.P147S	CLEC4C_uc001qth.1_Missense_Mutation_p.P147S|CLEC4C_uc001qti.1_Missense_Mutation_p.P116S	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	147	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGACCCCCTGGATCTGACAGC	0.443000														38			27		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875207	18875207	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:18875207G>A	uc003sui.3	+	18	2625	c.2584G>A	c.(2584-2586)Gag>Aag	p.E862K	HDAC9_uc003sue.3_Missense_Mutation_p.E859K|HDAC9_uc011jyd.2_Missense_Mutation_p.E859K|HDAC9_uc003suh.3_Missense_Mutation_p.E859K|HDAC9_uc003suj.3_Missense_Mutation_p.E818K|HDAC9_uc003suk.3_Missense_Mutation_p.E107K	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	859	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	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|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)	AGCCCCAAATGAGGTTCGGTT	0.443000														20			13		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807423	66807423	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:66807423C>T	uc009yrl.3	+	3	600	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	SYT12_uc001oju.3_Missense_Mutation_p.P124S	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	124						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						GGACCTGGCCCCCTATGGGAC	0.617000														46			21		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50760635	50760635	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:50760635C>T	uc010enu.1	+	17	2171	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	MYH14_uc002prq.1_Silent_p.F675F|MYH14_uc002prr.1_Silent_p.F667F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	667	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGGTATGTTCCGGACAGTGG	0.637000														6			4		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67062008	67062009	+	Missense_Mutation	DNP	CC	TT	TT	rs140278864		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:67062008_67062009CC>TT	uc003xvv.3	+	4	958_959	c.732_733CC>TT	c.(730-735)gtccgt>gtTTgt	p.R245C	TRIM55_uc003xvu.3_Missense_Mutation_p.R245C|TRIM55_uc003xvw.3_Missense_Mutation_p.R245C|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	245						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAACATGTCCGTGCTCTGAT	0.416000														58			14		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21712301	21712301	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:21712301G>A	uc002djh.3	+	9	934	c.933G>A	c.(931-933)agG>agA	p.R311R	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.R232R	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	311					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTCTGGAGAGGATCAGCTCCT	0.527000														22			13		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160755548	160755548	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:160755548G>A	uc002ubb.4	-	1	191	c.117C>T	c.(115-117)gtC>gtT	p.V39V	LY75-CD302_uc010fos.3_Silent_p.V39V|LY75-CD302_uc002ubc.4_Silent_p.V39V|LY75-CD302_uc010fot.2_Silent_p.V39V	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	39	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TATTTCCATGGACGATGGTGA	0.507000														57			20		0	0	1	0	0
GPER	2852	broad.mit.edu	37	7	1132424	1132424	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:1132424G>A	uc010ksd.1	+	1	1449	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A354T|GPER_uc003ska.1_Missense_Mutation_p.A354T|GPER_uc003skb.2_Missense_Mutation_p.A354T|GPER_uc021zyo.1_Missense_Mutation_p.A354T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	354						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTTCTGTCACGCTGCCCTGAA	0.587000														18			3		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85600096	85600096	+	Missense_Mutation	SNP	G	A	A	rs138848829	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:85600096G>A	uc003hpd.3	-	64	10531	c.10123C>T	c.(10123-10125)Cgg>Tgg	p.R3375W	WDFY3_uc003hpc.3_Missense_Mutation_p.R130W	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3375						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGTAATTCCGCACCTCAATG	0.507000														33			26		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250509	28250509	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:28250509C>T	uc009xky.3	-	9	1472	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_Silent_p.V150V|ARMC4_uc001itz.3_Silent_p.V458V|ARMC4_uc010qdu.1_Silent_p.V150V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	458							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTAAATATTTCACCAGCTTCT	0.378000														28			19		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132441115	132441115	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:132441115C>T	uc003epe.2	-	0	189	c.85G>A	c.(85-87)Gag>Aag	p.E29K	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	29					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGGGATCTCGCAGGCCTCG	0.771000														13			6		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899411	156899411	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:156899411G>A	uc003lwx.4	+	5	960	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.G263R	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	282						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCACGTTACGGGCAAAGGAA	0.507000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			52		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088185	94088185	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:94088185G>A	uc001ybv.1	+	27	4224	c.4141G>A	c.(4141-4143)Gcg>Acg	p.A1381T	UNC79_uc001ybs.1_Missense_Mutation_p.A1359T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1536						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACCCAAGCTGCGTATATCGC	0.488000														21			33		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43809058	43809058	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:43809058C>T	uc002zbb.2	-	3	503	c.302G>A	c.(301-303)gGg>gAg	p.G101E	TMPRSS3_uc002zaz.2_5'UTR|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.G101E|TMPRSS3_uc002zbd.3_Missense_Mutation_p.G101E	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	101	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CTCGTCCTCCCCGTCTTTGCA	0.537000														22			7		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16142123	16142124	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:16142123_16142124CC>TT	uc010bvi.3	+	9	1518_1519	c.1343_1344CC>TT	c.(1342-1344)ccc>cTT	p.P448L	ABCC1_uc010bvj.3_Missense_Mutation_p.P448L|ABCC1_uc010bvk.3_Missense_Mutation_p.P448L|ABCC1_uc010bvl.3_Missense_Mutation_p.P448L|ABCC1_uc010bvm.3_Missense_Mutation_p.P448L|ABCC1_uc002del.4_Missense_Mutation_p.P332L|ABCC1_uc010bvn.3_Missense_Mutation_p.P311L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	448	ABC transmembrane type-1 1.				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)	TGGTCAGCCCCCCTGCAAGTCA	0.550000														39			9		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597009	36597009	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:36597009G>A	uc021qgb.1	+	0	2155	c.2155G>A	c.(2155-2157)Gaa>Aaa	p.E719K	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.E719K	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	719					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	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)				GCGGGAAGTGGAAGGCCTCGA	0.488000									Familial Hemophagocytic Lymphohistiocytosis					23			15		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8722109	8722110	+	Splice_Site	DNP	AG	TA	TA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:8722109_8722110AG>TA	uc002wnb.3	+	23	2417	c.2414_splice	c.e23-1	p.D805_splice	PLCB1_uc010zrb.1_Splice_Site_p.D704_splice|PLCB1_uc002wna.3_Splice_Site_p.D805_splice|PLCB1_uc002wnc.1_Splice_Site_p.D704_splice|PLCB1_uc002wnd.1_Splice_Site_p.D382_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	805					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCCTATTTAGATGTCATCGA	0.386000														12			8		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229539	8229539	+	Silent	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:8229539C>G	uc003gkv.4	+	11	2219	c.2118C>G	c.(2116-2118)ctC>ctG	p.L706L	SH3TC1_uc003gkw.4_Silent_p.L630L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	706							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGCGTGGCTCTCAGACTGCT	0.652000														28			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167495	140167496	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140167495_140167496GG>AA	uc003lhb.2	+	0	1620_1621	c.1620_1621GG>AA	c.(1618-1623)gcgggc>gcAAgc	p.G541S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G541S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	555	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGATGCGGGCGTGCCGCC	0.678000														80			40		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491995	37491995	+	Silent	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:37491995G>T	uc003aqt.1	-	4	602	c.540C>A	c.(538-540)gtC>gtA	p.V180V	TMPRSS6_uc003aqs.1_Silent_p.V189V|TMPRSS6_uc003aqu.3_Silent_p.V180V	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	189					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CCCTGTAGGGGACGGCAGCCG	0.637000														38			23		5.35356e-11	5.43999e-11	1	1	0
ACTRT1	139741	broad.mit.edu	37	X	127185140	127185140	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:127185140G>A	uc004eum.3	-	0	1243	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	349						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ACTGCTCATAGAGGTCATGAT	0.473000														14			42		0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867709	2867709	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:2867709G>A	uc011mhh.2	-	6	1026	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	ARSE_uc011mhi.2_Missense_Mutation_p.H110Y|ARSE_uc004crc.4_Missense_Mutation_p.H164Y			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	164					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				AAGCCATGATGGAGAGGGTGG	0.498000														16			7		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100238722	100238723	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:100238722_100238723CC>TT	uc003uvv.1	-	1	231_232	c.162_163GG>AA	c.(160-165)atggag>atAAag	p.54_55ME>IK	TFR2_uc003uvw.1_Missense_Mutation_p.54_55ME>IK	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	54					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCTCAGCTCCATGGGGCAGA	0.678000														11			5		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75555296	75555296	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:75555296G>A	uc001xrl.3	-	19	2645	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	NEK9_uc001xrj.3_Missense_Mutation_p.L50F|NEK9_uc001xrk.3_Missense_Mutation_p.L331F	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	831	Interaction with NEK6.|Pro/Ser/Thr-rich.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GCTGCACTGAGAGGAGATGGG	0.458000											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			19		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23883308	23883308	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:23883308C>T	uc001wjx.3	-	37	5669	c.5563G>A	c.(5563-5565)Gag>Aag	p.E1855K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1855					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1854M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGTCCTCCTCCGTCTGGGGG	0.602000														27			17		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351773	123351773	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:123351773G>A	uc001udl.3	-	3	851	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	250	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGCTGAGTGGGGAGGCCCACG	0.667000														7			13		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183205733	183205733	+	Silent	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:183205733C>G	uc001gqa.2	+	16	2909	c.2595C>G	c.(2593-2595)tcC>tcG	p.S865S	LAMC2_uc001gpz.4_Silent_p.S865S|LAMC2_uc010poa.2_Silent_p.S565S	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	865	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.Q864*(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GTGATCAGTCCTTTCAGGTGA	0.488000														33			16		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477533	6477533	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:6477533G>A	uc001mdh.3	-	6	1819	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	TRIM3_uc001mdi.3_Missense_Mutation_p.R475C|TRIM3_uc010raj.2_Missense_Mutation_p.R356C|TRIM3_uc009yfd.3_Missense_Mutation_p.R475C|TRIM3_uc010rak.1_Missense_Mutation_p.R475C|TRIM3_uc001mdj.2_Missense_Mutation_p.R356C	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	475					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACCAACACGGAAGACGAGC	0.572000														43			22		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870774	51870774	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:51870774G>A	uc002xwo.3	+	1	1664	c.777G>A	c.(775-777)agG>agA	p.R259R	TSHZ2_uc021wex.1_Silent_p.R256R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	259					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAAGCCCAGGAAAAGGGCTT	0.478000														25			15		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457275	20457276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:20457275_20457276CC>TT	uc002zsd.4	-	0	4511_4512	c.4026_4027GG>AA	c.(4024-4029)caggaa>caAAaa	p.E1343K	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GCAGCCTTTTCCTGACACGGTT	0.559000														8			5		0	0	1	0	0
ARFIP1	27236	broad.mit.edu	37	4	153831231	153831231	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:153831231A>G	uc003imz.3	+	8	1258	c.982A>G	c.(982-984)Aat>Gat	p.N328D	ARFIP1_uc003inb.3_Missense_Mutation_p.N296D|ARFIP1_uc003ina.3_Missense_Mutation_p.N296D|ARFIP1_uc003inc.3_Missense_Mutation_p.N328D|ARFIP1_uc011cij.2_Missense_Mutation_p.N148D	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	328	AH.				intracellular protein transport|regulation of protein secretion	Golgi membrane|cytosol			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGTATTGCACAATCAGCTGGT	0.373000														45			30		0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752312	247752312	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:247752312C>T	uc010pyy.2	+	0	651	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTCATTCATCCTGGTCTCCT	0.517000														34			15		0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47655565	47655565	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:47655565C>T	uc001cqw.3	-	0	207	c.40G>A	c.(40-42)Gca>Aca	p.A14T		NM_005764	NP_005755	Q13113	PDZ1I_HUMAN	Homo sapiens PDZK1 interacting protein 1 (PDZK1IP1), mRNA.	14						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						GGTGGCACTGCCGTGAGCAGG	0.667000														10			5		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21954063	21954063	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:21954063C>T	uc001rfh.3	-	37	4585	c.4565G>A	c.(4564-4566)gGa>gAa	p.G1522E		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1522	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.G1522E(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAATATTTCCTCGCTTCAT	0.408000														22			15		0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113639	94113639	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:94113639G>A	uc001pet.2	-	3	1120	c.948C>T	c.(946-948)tcC>tcT	p.S316S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	316						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGACCTTGCTGGACAGGAGGA	0.532000														26			25		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75683631	75683631	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:75683631G>A	uc010oqz.1	-	16	1727	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	SLC44A5_uc001dgt.2_Missense_Mutation_p.S515F|SLC44A5_uc001dgs.2_Missense_Mutation_p.S473F|SLC44A5_uc001dgr.2_Missense_Mutation_p.S473F|SLC44A5_uc001dgu.3_Missense_Mutation_p.S515F|SLC44A5_uc010ora.2_Missense_Mutation_p.S509F|SLC44A5_uc010orb.2_Missense_Mutation_p.S385F	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	515						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAATGCTAGGGATCCTGTGTG	0.294000														21			19		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297369	117297369	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:117297369G>A	uc001egu.4	+	1	207	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	CD2_uc010owz.1_Missense_Mutation_p.E60K|CD2_uc010oxa.1_Missense_Mutation_p.E60K	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	60	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TATAAAATGGGAAAAAACTTC	0.353000														12			18		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371278	48371279	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:48371278_48371279CC>TT	uc001jex.3	+	1	908_909	c.746_747CC>TT	c.(745-747)ccc>cTT	p.P249L	ZNF488_uc021ppx.1_Missense_Mutation_p.P249L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	249			P -> S (in dbSNP:rs3814160).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCCCAGGTGCCCCCACCCTCAT	0.589000														16			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175938	140175938	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140175938C>T	uc003lhd.2	+	0	1495	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.F463F|PCDHAC2_uc011czy.2_Silent_p.F463F	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	477	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACAGTATTCGTGAAGGAGA	0.647000														47			32		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741867	98741867	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:98741867C>T	uc001kmv.3	+	0	827	c.720C>T	c.(718-720)gcC>gcT	p.A240A	C10orf12_uc009xvg.2_Silent_p.A550A	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	240								p.P239S(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAATTCCAGCCCCTAGACATA	0.493000														36			11		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142151402	142151402	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:142151402C>T	uc003yvy.3	+	3	640	c.362C>T	c.(361-363)tCc>tTc	p.S121F	DENND3_uc003yvw.1_Missense_Mutation_p.S134F|DENND3_uc003yvx.3_Missense_Mutation_p.P200S|DENND3_uc010mep.3_Missense_Mutation_p.S134F	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	121	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TATTACAACTCCCTCAAGGAC	0.612000														104			25		0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142977	41142977	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:41142977C>T	uc002ici.1	+	4	1098	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	362										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GTGCCACAGGCCAGATCCCTC	0.592000														25			23		0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770317	90770317	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:90770317G>C	uc001kfr.3	+	4	811	c.465G>C	c.(463-465)aaG>aaC	p.K155N	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Missense_Mutation_p.K155N|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Missense_Mutation_p.K155N|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_Missense_Mutation_p.R119T|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	155					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GAATCATCAAGGAATGCACAC	0.358000														19			16		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41763460	41763460	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:41763460G>A	uc010ehj.3	+	18	2449	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	AXL_uc010ehk.3_Silent_p.V744V	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCCGGGCGTGGAGAACAGCG	0.567000														70			25		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436256	158436256	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:158436256G>A	uc010pij.2	+	0	905	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCAGCCCTACGAAGAACAATC	0.373000														26			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045740	9045740	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:9045740G>A	uc002mkp.3	-	4	36095	c.35891C>T	c.(35890-35892)cCa>cTa	p.P11964L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11966	Thr-rich.				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						GATAGTGGTTGGACTCACTCC	0.478000														51			40		0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86119209	86119209	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:86119209C>T	uc001pbx.2	+	8	1438	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	CCDC81_uc001pbw.2_Missense_Mutation_p.S247F|CCDC81_uc010rtq.2_Missense_Mutation_p.S120F|CCDC81_uc001pby.2_Intron	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	337										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAACGAAATTCCCTGTTGTAC	0.388000														13			18		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807519	20807519	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:20807519C>T	uc002npb.1	-	3	1314	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	ZNF626_uc002npc.1_Silent_p.K312K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGAATTATCTTATGCGTAG	0.388000														60			36		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47452966	47452966	+	Silent	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:47452966C>G	uc003crf.1	+	19	3774	c.3678C>G	c.(3676-3678)gtC>gtG	p.V1226V	PTPN23_uc011baw.1_Silent_p.V1191V|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.V1096V|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1226	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCAGGATGTCATGCCCTATG	0.602000														47			17		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736386	158736386	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:158736386G>A	uc010piq.2	-	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29H(1)		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)					GAAGCAACAAGAGGAAGAGAT	0.502000														21			17		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512854	70512854	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:70512854G>A	uc011caq.2	-	1	625	c.509C>T	c.(508-510)tCc>tTc	p.S170F	UGT2A1_uc010ihu.3_Missense_Mutation_p.S170F|UGT2A1_uc003hem.4_Missense_Mutation_p.S170F|UGT2A1_uc010iht.3_Missense_Mutation_p.S170F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	170					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAACCTCAAGGAGTACATAAA	0.428000														29			14		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839049	150839049	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:150839049T>C	uc003wjg.1	+	13	1872	c.1869T>C	c.(1867-1869)gcT>gcC	p.A623A	AGAP3_uc003wje.1_Silent_p.A292A|AGAP3_uc003wjj.1_Silent_p.A122A|AGAP3_uc003wjk.1_Silent_p.A41A	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	587					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACTTCGAGGCTTCAACGGCGG	0.612000														43			34		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253779	44253779	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:44253779G>A	uc003oxi.2	-	2	924	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	256										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GATTCCACTCGAAATTCATGC	0.582000														49			25		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541054	55541054	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:55541054G>A	uc010ril.2	+	0	141	c.141G>A	c.(139-141)atG>atA	p.M47I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACTTGGGCATGATAATAATCA	0.393000														48			34		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20535232	20535232	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:20535232G>A	uc003gpr.1	+	17	1930	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	SLIT2_uc003gps.1_Missense_Mutation_p.G568R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	576					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TATTGAGGAGGGAGCATTTGA	0.338000														20			9		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581168	24581168	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:24581168C>T	uc002dmh.3	+	16	4197	c.3157C>T	c.(3157-3159)Cct>Tct	p.P1053S	RBBP6_uc010vcb.1_Missense_Mutation_p.P920S|RBBP6_uc002dmi.3_Missense_Mutation_p.P1019S|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.P886S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1053	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGAGAGATCTCCTCGATCTGA	0.398000														27			15		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089877	134089877	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:134089877G>A	uc003eqf.2	-	1	690	c.573C>T	c.(571-573)ccC>ccT	p.P191P	AMOTL2_uc003eqg.1_Silent_p.P133P|AMOTL2_uc003eqh.1_Silent_p.P133P	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	133										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCCCCACGGGGATCTCGGT	0.687000														9			6		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172968	5172968	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:5172968C>T	uc010qyy.2	-	0	632	c.632G>A	c.(631-633)gGa>gAa	p.G211E		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	211					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGTCAAATCCTGCTACAGT	0.423000														36			15		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124383294	124383294	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:124383294C>T	uc001uft.4	+	54	9244	c.9219C>T	c.(9217-9219)atC>atT	p.I3073I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3073	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCAGAAGATCGTGCTGGCGG	0.652000														4			6		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136561546	136561546	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:136561546G>A	uc002tuu.1	-	10	4628	c.4617C>T	c.(4615-4617)ccC>ccT	p.P1539P		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1539	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)		CAATGACAAAGGGCTCATTCA	0.512000														21			13		0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604786	59604786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:59604786C>T	uc001noi.3	-	5	780	c.732G>A	c.(730-732)tgG>tgA	p.W244*		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	244					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTTGCAGTTCCATTCCTTTT	0.448000														19			4		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383098	85383098	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:85383098C>T	uc002ble.3	+	4	1361	c.1194C>T	c.(1192-1194)atC>atT	p.I398I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	398					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCGCGAGATCGAGCAGAGCT	0.642000														38			5		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769007	50769008	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:50769007_50769008TC>GT	uc002xwl.3	-	5	2072_2073	c.1723_1724GA>AC	c.(1723-1725)gag>ACg	p.E575T	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.E573T|ZFP64_uc002xwn.3_Missense_Mutation_p.E521T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCCGTCTGCTCGTGGGTGGTC	0.649000														12			13		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092785	53092785	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:53092785T>C	uc003xqz.2	-	3	330	c.174A>G	c.(172-174)ctA>ctG	p.L58L	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.L23L|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.L58L|ST18_uc003xrb.2_Silent_p.L58L|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	58						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)				GGGGCTTCATTAGCAGGGATT	0.507000														64			28		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458398	45458398	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:45458398C>T	uc001rol.3	-	0		c.797G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TACCTGTTTTCCTTTGGCTCC	0.522000														12			3		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109819057	109819057	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:109819057G>A	uc003ptn.2	-	36	5235	c.5158C>T	c.(5158-5160)Cct>Tct	p.P1720S	AKD1_uc011eas.1_Missense_Mutation_p.P105S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1720					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						GCACACTTAGGGAATCGACTC	0.498000														35			19		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212989614	212989614	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:212989614C>T	uc002veg.1	-	1	195	c.97G>A	c.(97-99)Gag>Aag	p.E33K	ERBB4_uc002veh.1_Missense_Mutation_p.E33K|ERBB4_uc010zji.1_Missense_Mutation_p.E33K|ERBB4_uc010zjj.1_Missense_Mutation_p.E33K|ERBB4_uc010fut.1_Missense_Mutation_p.E33K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	33					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGTTTATTCTCCGTTCCTGCA	0.418000										TSP Lung(8;0.080)				23			13		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106970971	106970971	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:106970971G>A	uc001kyi.1	+	16	2565	c.2338G>A	c.(2338-2340)Gac>Aac	p.D780N	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	780						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCCATCAAAGGACTGCAGCCT	0.463000														12			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106780540	106780540	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:106780540C>T	uc021ser.1	-	655		c.18154G>A								Parts of antibodies, mostly variable regions.																		CGGCCGTGTCCACGGCGGTCA	0.597000														115			49		0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52793939	52793939	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:52793939C>T	uc002pyt.1	+	4	1317	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	ZNF766_uc002pyr.1_Missense_Mutation_p.H299Y|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		AGAGAAACCTCATAAATGTAA	0.358000														10			11		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171125	117171125	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:117171125G>A	uc003vjd.3	+	3	578	c.446G>A	c.(445-447)gGa>gAa	p.G149E	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	149	ABC transmembrane type-1 1.		G -> R (in CBAVD).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATCACATTGGAATGCAGATG	0.408000									Cystic Fibrosis					17			4		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55300472	55300472	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:55300472G>A	uc003pcn.3	-	9	1260	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	HMGCLL1_uc011dxe.2_Silent_p.S171S|HMGCLL1_uc003pco.3_Silent_p.S337S|HMGCLL1_uc010jzx.3_Silent_p.S238S|HMGCLL1_uc011dxc.2_Silent_p.S305S|HMGCLL1_uc011dxd.2_Silent_p.S234S	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	367							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCATTGAAGGAGGCTTGTG	0.383000														20			20		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77477645	77477645	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:77477645C>T	uc002lnh.2	+	8	2326	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	CTDP1_uc002lni.2_Missense_Mutation_p.P727S|CTDP1_uc010drd.2_Missense_Mutation_p.P727S|CTDP1_uc021ult.1_Missense_Mutation_p.P608S	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	727	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCAGCTCTTCCCGCTCAGGGA	0.642000														33			23		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31735178	31735178	+	Nonsense_Mutation	SNP	G	A	A	rs138415590	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:31735178G>A	uc011dog.2	-	11	1988	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	VWA7_uc003nxd.2_Nonsense_Mutation_p.Q259*	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	584						extracellular region											GCTGTGACCTGGATCTCCCAG	0.602000														19			35		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	RNA	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:41962602G>T	uc004aca.4	-	2		c.907C>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TTCTTTCTTTGTTTTTTTTCC	0.373000														17			5		0.27861	0.278871	1	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913210	77913210	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:77913210G>A	uc022bzi.1	-	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ZCCHC5_uc004edc.1_Silent_p.F236F	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	236							nucleic acid binding|zinc ion binding	p.D235E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATTGCAGGGGGAAATCTGTAG	0.502000														2			3		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47414119	47414120	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr21:47414119_47414120CC>TT	uc002zhu.1	+	19	1476_1477	c.1374_1375CC>TT	c.(1372-1377)ggcccc>ggTTcc	p.P459S		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	459	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GAAGAGAAGGCCCCGTTGGTGT	0.639000														11			3		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079568	57079568	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:57079568T>C	uc003xsq.4	-	2	1188	c.737A>G	c.(736-738)gAa>gGa	p.E246G	PLAG1_uc003xsr.4_Missense_Mutation_p.E246G|PLAG1_uc010lyi.3_Missense_Mutation_p.E246G|PLAG1_uc010lyj.3_Missense_Mutation_p.E164G|PLAG1_uc022aur.1_Missense_Mutation_p.E164G	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	246	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATCCACTGGTTCTGTTTTGAC	0.448000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									90			29		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742803	51742803	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:51742803C>T	uc002pwa.2	+	6	995	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.P192S|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	319					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GTTACATGGCCCCACTGAAAC	0.522000														17			15		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34854406	34854406	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:34854406G>A	uc002lae.2	-	5	1065	c.669C>T	c.(667-669)tcC>tcT	p.S223S	CELF4_uc021uix.1_Silent_p.S222S|CELF4_uc021uiy.1_Silent_p.S223S|CELF4_uc002lag.2_Silent_p.S213S|CELF4_uc002laf.2_Silent_p.S218S|CELF4_uc002lai.2_Silent_p.S208S|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Nonsense_Mutation_p.Q59*	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	223	RRM 2.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.S222S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCACCAGACTGGACGAGGCTC	0.701000														45			32		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345329	20345329	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:20345329G>A	uc001vwh.1	+	0	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGGAAACTGAAAAATAGGT	0.348000														79			13		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561983	11561983	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:11561983C>T	uc001ash.4	+	1	1072	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	PTCHD2_uc001asi.1_Missense_Mutation_p.R312W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	312					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCAGGCTTCCGGGAGTTCTG	0.617000														5			16		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189871689	189871689	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:189871689C>T	uc002uqj.1	+	43	3345	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1076	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGTGCTCCCGGTCCTGCTG	0.393000														22			13		0	0	1	0	0
PANX3	116337	broad.mit.edu	37	11	124481634	124481634	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:124481634G>A	uc001qah.3	+	1	181	c.181_splice	c.e1+1	p.G61_splice		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	61					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TTCTCCTCTGGTAAGTTGCTT	0.577000														17			12		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566171	73566171	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:73566171C>T	uc002joh.3	+	14	1863	c.1709C>T	c.(1708-1710)cCc>cTc	p.P570L	LLGL2_uc002joi.3_Missense_Mutation_p.P570L|LLGL2_uc010dgg.2_Missense_Mutation_p.P570L|LLGL2_uc002joj.3_Missense_Mutation_p.P559L|LLGL2_uc010wsd.2_Missense_Mutation_p.P197L	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	570					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGCTCAGGGCCCGTGCGCTTT	0.687000														14			3		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276294	27276294	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:27276294G>A	uc002rie.3	+	2	457	c.240G>A	c.(238-240)cgG>cgA	p.R80R	AGBL5_uc002rid.3_Silent_p.R80R|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	80					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.R80W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCGTCCGGGGAGGAATGC	0.527000														35			18		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38512000	38512000	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:38512000G>A	uc010ive.1	-	5	960	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	LIFR_uc003jli.2_Missense_Mutation_p.P210S	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	210					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CATTCCAAGGGCATATCTGAG	0.418000			T	PLAG1	salivary adenoma									21			16		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286577	57286577	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:57286577G>A	uc002qnr.2	-	10	1445	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.P151S|PEG3_uc010ygq.1_Missense_Mutation_p.P151S|PEG3_uc010etp.2_Missense_Mutation_p.P355S|PEG3_uc010ygs.1_Missense_Mutation_p.P355S|PEG3_uc002qnq.2_Missense_Mutation_p.P355S	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	504					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)		CATTCATAGGGTTTCTTCCCA	0.448000														38			19		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638665	176638665	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:176638665G>A	uc003mfr.4	+	4	3403	c.3265G>A	c.(3265-3267)Gat>Aat	p.D1089N	NSD1_uc003mft.4_Missense_Mutation_p.D820N|NSD1_uc003mfs.1_Missense_Mutation_p.D986N|NSD1_uc011dfx.2_Missense_Mutation_p.D737N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1089					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TAGTAAAGAGGATCCCCTTCA	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				35			24		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34097113	34097113	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:34097113C>T	uc002hjy.1	-	5	1079	c.820G>A	c.(820-822)Gac>Aac	p.D274N	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	275					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGCACGTCGTCCCAGCTG	0.701000														8			5		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75286499	75286499	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:75286499G>A	uc001juo.3	-	13	2117	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	USP54_uc010qkk.2_5'Flank|USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Silent_p.S700S	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	700					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TATGACGCCAGGAAGGAACCA	0.493000														18			13		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16875888	16875888	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:16875888T>G	uc002neu.4	+	9	2717	c.2295T>G	c.(2293-2295)atT>atG	p.I765M	NWD1_uc002net.4_Missense_Mutation_p.I630M|NWD1_uc002nev.4_Missense_Mutation_p.I559M|NWD1_uc021uqg.1_Missense_Mutation_p.I630M	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	765							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGGGGGCATTGAAGACCTGC	0.622000														45			29		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245054	41245054	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:41245054G>A	uc002icq.3	-	9	2726	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P761S|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P785S|BRCA1_uc002ict.3_Missense_Mutation_p.P832S|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P832S|BRCA1_uc002ide.1_Missense_Mutation_p.P663S|BRCA1_uc010cyy.1_Missense_Mutation_p.P832S|BRCA1_uc010whs.1_Missense_Mutation_p.P832S|BRCA1_uc010cyz.2_Missense_Mutation_p.P785S|BRCA1_uc010cza.2_Missense_Mutation_p.P806S|BRCA1_uc010wht.1_Missense_Mutation_p.P536S	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	832					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTCCCAATGGATACTTAAAG	0.373000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				68			48		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50926685	50926685	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:50926685G>A	uc001zyt.4	-	7	1183	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	TRPM7_uc010bew.2_Missense_Mutation_p.L301F	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	301					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGGTATTCAAGAACTGTGAGG	0.428000														25			6		0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139193941	139193941	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:139193941G>A	uc003leu.1	+	3	1213	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	336	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGCAGCTGGGCAAGAAGT	0.637000														22			6		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227872279	227872279	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:227872279C>T	uc021vxr.1	-	46	4936	c.4835G>A	c.(4834-4836)gGa>gAa	p.G1612E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1609E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1612	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G1611R(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCCTGCCCTCCTCCTTGGTC	0.562000														24			16		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712276	121712276	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:121712276C>T	uc003ees.3	-	6	1523	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	ILDR1_uc003eeq.3_Silent_p.R408R|ILDR1_uc003eer.3_Silent_p.R396R|ILDR1_uc010hrg.3_Silent_p.R351R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	440	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GACAGCGGCTCCTGAAAGGAG	0.667000														12			6		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118880	194118880	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:194118880G>A	uc003ftv.1	-	1	163	c.132C>T	c.(130-132)tcC>tcT	p.S44S	GP5_uc021xiz.1_Silent_p.S44S	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	44	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCCTAGCGCGGAGATGCGCG	0.697000														24			22		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48716841	48716841	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:48716841G>A	uc003cun.3	-	8	1633	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	NCKIPSD_uc003cum.3_Silent_p.S506S	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	513					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCTCCCATGGAGAAGACCA	0.582000														30			23		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233446	65233446	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:65233446G>A	uc001xht.3	-	30	6394	c.6343C>T	c.(6343-6345)Ccg>Tcg	p.P2115S	SPTB_uc001xhr.3_Missense_Mutation_p.P2115S|SPTB_uc001xhs.3_Missense_Mutation_p.P2115S|SPTB_uc001xhu.3_Missense_Mutation_p.P2115S|SPTB_uc010aqi.3_Missense_Mutation_p.P776S	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2115					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGACTGACCGGGGACGTTCTC	0.592000														62			43		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821315	206821315	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:206821315G>A	uc001hej.3	+	2	940	c.772G>A	c.(772-774)Gag>Aag	p.E258K	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.E238K	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	258	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCGGATTTTGGAGCATCTTAA	0.448000														52			38		0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492270	77492271	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:77492270_77492271GG>AA	uc001xsy.3	-	0	2764_2765	c.1865_1866CC>TT	c.(1864-1866)tcc>tTT	p.S622F		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein-like (IRF2BPL), mRNA.	622	Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGGCCATAGGGGACGGACCGTT	0.703000														7			6		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440834	168440834	+	Missense_Mutation	SNP	C	T	T	rs139367341	by1000genomes	TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:168440834C>T	uc003qwk.1	+	5	846	c.584C>T	c.(583-585)tCc>tTc	p.S195F	KIF25_uc003qwl.1_Missense_Mutation_p.S195F	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	195	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGCGGATTCCTCCAGGTCT	0.557000														16			13		0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197916	74197917	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:74197916_74197917CC>TT	uc003ubb.3	+	6	693_694	c.623_624CC>TT	c.(622-624)tcc>tTT	p.S208F	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	208	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						ATCCCAGCGTCCTTCCTCGAGC	0.634000														30			9		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736390	16736390	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:16736390G>T	uc001ayn.3	-	5	776	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.S75Y	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	98							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCCGATGGGAGGCCTCCAT	0.657000														24			14		9.04627e-18	9.26269e-18	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226925114	226925114	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:226925114T>C	uc010pvo.2	-	1	386	c.46A>G	c.(46-48)Agc>Ggc	p.S16G	ITPKB_uc001hqh.3_Missense_Mutation_p.S16G	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	16							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCGTTGGCGCTATTCATGATC	0.701000														14			15		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57334181	57334182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:57334181_57334182CC>TT	uc002qnu.2	-	2	855_856	c.504_505GG>AA	c.(502-507)aggggc>agAAgc	p.G169S	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.G44S|PEG3_uc010etp.2_Missense_Mutation_p.G44S|PEG3_uc010ygs.1_Missense_Mutation_p.G44S|PEG3_uc002qnq.2_Missense_Mutation_p.G44S|PEG3_uc002qnt.2_Missense_Mutation_p.G170S|PEG3_uc002qnv.2_Missense_Mutation_p.G169S|PEG3_uc002qnw.2_Missense_Mutation_p.G44S|PEG3_uc002qnx.2_Missense_Mutation_p.G43S|PEG3_uc010etr.2_Missense_Mutation_p.G169S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	169					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)		CTGCTTCTGCCCCTCCGGTCCC	0.530000														9			10		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	436729	436729	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:436729G>A	uc001ifp.3	-	10	1425	c.1335C>T	c.(1333-1335)tgC>tgT	p.C445C	DIP2C_uc009xhj.1_Silent_p.C141C	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	445						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)		GTCCTTTATGGCAGGCGTCAC	0.537000														51			27		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891299	18891299	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:18891299G>A	uc001rdy.3	+	0	255	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	33					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCCTTTGATGATCTCTGTCT	0.458000														21			20		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000049	167000049	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:167000049A>C	uc011bpc.2	-	19	2568	c.2231T>G	c.(2230-2232)tTa>tGa	p.L744*	ZBBX_uc003feq.3_Nonsense_Mutation_p.L676*|ZBBX_uc003fep.3_Nonsense_Mutation_p.L705*	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	705						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGCACTTGTAATTCTTTTTC	0.333000														25			15		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106668	168106668	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:168106668G>A	uc002udx.3	+	8	8855	c.8766G>A	c.(8764-8766)caG>caA	p.Q2922Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.Q2747Q|XIRP2_uc010fpq.3_Silent_p.Q2700Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2747					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						AGATTACACAGAACAAATCTT	0.373000														31			23		0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396527	127396527	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:127396527C>T	uc003ejt.3	+	9	958	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ABTB1_uc003ejr.3_Silent_p.F148F|ABTB1_uc003ejs.3_Silent_p.F265F|ABTB1_uc003eju.3_Silent_p.F148F|ABTB1_uc010hsm.3_Silent_p.F17F	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	290	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGGCCTTTTTCTGTGGCCGCA	0.682000														6			7		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168999536	168999536	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:168999536G>A	uc003qwr.2	+	7	929	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SMOC2_uc003qws.2_Missense_Mutation_p.E226K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	226	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGCCCTGGAGGAAGCCAAGCA	0.607000														45			25		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576558	71576558	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:71576558T>C	uc002shx.3	+	1	797	c.474T>C	c.(472-474)agT>agC	p.S158S	ZNF638_uc010fec.2_Silent_p.S264S|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.S158S|ZNF638_uc002shz.3_Silent_p.S158S|ZNF638_uc002shy.3_Silent_p.S158S|ZNF638_uc002sia.3_Silent_p.S158S|ZNF638_uc002sib.1_Silent_p.S158S	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	158					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAACTTAGTCGCTATCCTG	0.398000														33			14		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030261	44030261	+	Silent	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:44030261C>G	uc002lcb.1	+	4	669	c.618C>G	c.(616-618)gtC>gtG	p.V206V	RNF165_uc002lby.1_Silent_p.V139V|RNF165_uc010dnn.1_Silent_p.V2V	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	206							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCCAACAGGTCGTCCATGAAA	0.522000														20			18		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751599	19751599	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:19751599G>A	uc009zzj.3	-	3	629	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	175					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGAGACCTGGGGGGCTGGGTA	0.582000														23			305		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256193	15256193	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:15256193G>A	uc001iob.3	-	7	1401	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	465			P -> S (in dbSNP:rs3814165).			integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGCCTTTAAGGGAAAAACCTC	0.463000														20			12		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568597	61568597	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:61568597G>A	uc002jau.2	+	18	2801	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	ACE_uc010wpj.2_Missense_Mutation_p.E349K|ACE_uc010ddv.2_Missense_Mutation_p.E150K|ACE_uc002jav.2_Missense_Mutation_p.E349K|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.E169K	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	923	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GATGTTTAAGGAGGCTGATGA	0.632000														41			8		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9305506	9305506	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:9305506C>T	uc001apt.3	+	1	786	c.513C>T	c.(511-513)gtC>gtT	p.V171V		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	171	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGCGGGTTGTCCTTGAGAAAC	0.587000														16			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772512	140772512	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140772512C>T	uc003lkd.2	+	0	1030	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.F44F|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	44	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCTCCTTCGTGGGTAATA	0.602000														28			8		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10131441	10131441	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:10131441G>A	uc002mmr.3	+	3	748	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	167					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GGGATTCTTCGAAAGCCTCGC	0.582000														15			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474650	82474650	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:82474650G>A	uc003uhx.2	-	12	14272	c.13983C>T	c.(13981-13983)tcC>tcT	p.S4661S	PCLO_uc003uhv.2_Silent_p.S4661S|PCLO_uc003uht.1_Silent_p.S112S|PCLO_uc003uhu.1_Silent_p.S91S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4549	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTGGGAACGGAACTGGATC	0.512000														17			19		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640962	57640963	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:57640962_57640963CC>TT	uc002qny.3	+	3	1275_1276	c.919_920CC>TT	c.(919-921)cca>TTa	p.P307L	USP29_uc021vci.1_Missense_Mutation_p.P307L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	307					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTGCAATTCCATCTTTTGCT	0.441000														40			17		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961028	34961028	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:34961028C>T	uc004ddi.2	+	0	116	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	27										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAACCGCCTTCCAAGTACTTC	0.622000														15			9		0	0	1	0	0
C3orf43	255798	broad.mit.edu	37	3	196234890	196234890	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:196234890G>A	uc003fws.3	-	2	670	c.513C>T	c.(511-513)aaC>aaT	p.N171N	C3orf43_uc003fwr.3_Silent_p.N163N	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Homo sapiens chromosome 3 open reading frame 43 (C3orf43), mRNA.	171						integral to membrane				NS(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	8	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		TCTTTACCATGTTAGTAATTA	0.458000														21			21		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447193	226447193	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:226447193C>T	uc002voe.2	+	3	1235	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P124S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	354	Pro-rich.																CGACGAGTCCCCGCTTACCCC	0.647000														16			8		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101768645	101768645	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:101768645T>C	uc001tia.1	+	54	7347	c.7191T>C	c.(7189-7191)gtT>gtC	p.V2397V		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2397					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGAAGGAGTTGATTTTGAGA	0.368000														51			47		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106638778	106638778	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:106638778C>T	uc003hxz.4	+	1	80	c.8C>T	c.(7-9)gCc>gTc	p.A3V	GSTCD_uc003hxx.2_Missense_Mutation_p.A3V|GSTCD_uc003hxy.4_Missense_Mutation_p.A3V|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.A3V	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	3						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAATGAAAGCCATAAAGAAA	0.308000														18			8		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	29993816	29993816	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:29993816G>A	uc001zcr.3	-	27	5705	c.5230C>T	c.(5230-5232)Ctt>Ttt	p.L1744F	TJP1_uc010azl.3_Missense_Mutation_p.L1752F|TJP1_uc001zcq.3_Missense_Mutation_p.L1688F|TJP1_uc001zcs.3_Missense_Mutation_p.L1664F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1744					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				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)		TGGTCAATAAGGACAGAAACA	0.348000														32			12		0	0	1	0	0
SUCLG1	8802	broad.mit.edu	37	2	84658752	84658752	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:84658752A>T	uc002son.3	-	6	898	c.705T>A	c.(703-705)gaT>gaA	p.D235E		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	235					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AGTCAATAAAATCTGTTCCAT	0.363000														22			19		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90301555	90301555	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:90301555G>A	uc004apc.3	+	20	2452	c.2314G>A	c.(2314-2316)Ggg>Agg	p.G772R	DAPK1_uc004apd.3_Missense_Mutation_p.G772R|DAPK1_uc011ltg.2_Missense_Mutation_p.G772R|DAPK1_uc011lth.2_Missense_Mutation_p.G509R	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	772					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTTACCAAAGGGATGCTGGA	0.582000									Chronic Lymphocytic Leukemia, Familial Clustering of					2			6		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64567094	64567094	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:64567094G>A	uc001obh.3	-	12	1069	c.977C>T	c.(976-978)aCc>aTc	p.T326I	MAP4K2_uc001obi.3_Missense_Mutation_p.T326I	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	326					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CTCCGAGGGGGTCCTCTCGGC	0.572000														10			5		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6120828	6120828	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:6120828G>A	uc001qnn.1	-	33	6047	c.5797C>T	c.(5797-5799)Cct>Tct	p.P1933S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1933					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACTTTAACAGGGGACTGGCTG	0.602000														12			8		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124163787	124163787	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:124163787C>T	uc001ufp.3	+	4	643	c.515C>T	c.(514-516)cCt>cTt	p.P172L	TCTN2_uc009zya.3_Missense_Mutation_p.P171L	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	172	Cys-rich.				cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGCCCTTGTCCTTGTAATTTA	0.448000														41			26		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150051332	150051332	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:150051332G>A	uc003lss.2	+	4	873	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	MYOZ3_uc003lsr.2_Missense_Mutation_p.G96S	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	96	Binding to FLNC.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATGCCAATGGCCCTGAGGG	0.731000														22			12		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110455983	110455984	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:110455983_110455984CC>TT	uc003yne.3	+	36	4747_4748	c.4643_4644CC>TT	c.(4642-4644)acc>aTT	p.T1548I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1548					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)			CTGAACAATACCAGGGTTAAAA	0.431000										HNSCC(38;0.096)				35			5		0	0	1	0	0
C19orf80	55908	broad.mit.edu	37	19	11350541	11350541	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:11350541C>T	uc021upg.1	+	0	247	c.228C>T	c.(226-228)ctC>ctT	p.L76L	DOCK6_uc010xlq.2_5'Flank|DOCK6_uc002mqs.4_Intron|C19orf80_uc010dxw.3_Intron	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN	Homo sapiens chromosome 19 open reading frame 80 (C19orf80), mRNA.	76						extracellular region				NS(1)|breast(1)|endometrium(2)	4						CAATAGAACTCCTGGGGCAGG	0.647000														9			4		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62319064	62319064	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:62319064C>T	uc021wge.1	+	15	1592	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.S474S|RTEL1_uc011abd.2_Silent_p.S498S|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.S251S|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	474					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCGTCCGCTCCCTCATCCTTA	0.687000														8			4		0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15371246	15371246	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:15371246T>G	uc004cwt.2	-	4	1153	c.686A>C	c.(685-687)gAt>gCt	p.D229A	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	229	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGTTGCTATCCCATAGCAT	0.328000														27			18		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694391	42694391	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:42694391A>G	uc010ggo.3	+	6	1040	c.1000A>G	c.(1000-1002)Aac>Gac	p.N334D	TOX2_uc002xle.4_Missense_Mutation_p.N292D|TOX2_uc010ggp.3_Missense_Mutation_p.N292D|TOX2_uc002xlf.4_Missense_Mutation_p.N316D|TOX2_uc010zwk.2_Missense_Mutation_p.N212D	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACTCAGGCAAACCCACCAGC	0.587000														104			53		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57417739	57417739	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:57417739C>T	uc001cyp.3	-	4	715	c.648G>A	c.(646-648)gtG>gtA	p.V216V	C8B_uc010oon.2_Silent_p.V154V|C8B_uc010ooo.2_Silent_p.V164V	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	216	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTAGCTTTCCACATTGTAGG	0.552000														39			20		0	0	1	0	0
PPBPP2	10895	broad.mit.edu	37	4	74919832	74919832	+	RNA	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:74919832C>T	uc010iim.1	-	0		c.1285G>A								Homo sapiens pro-platelet basic protein-like 2 (PPBPL2), non-coding RNA.																		ATTTTTTCTCCCATCTTACAG	0.398000														6			5		0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1255597	1255597	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:1255597C>T	uc002lrp.3	+	6	1548	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	345						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGACCTGGCCCCCAG	0.721000														14			19		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	804073	804073	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:804073C>G	uc002lpr.2	+	3	259	c.153C>G	c.(151-153)agC>agG	p.S51R	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.S51R|PTBP1_uc002lpq.2_Missense_Mutation_p.S51R|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	51					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AAGGTGACAGCCGAAGTGCAG	0.587000														26			22		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7169808	7169808	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:7169808G>A	uc001qsj.3	+	5	754	c.35G>A	c.(34-36)tGg>tAg	p.W12*	C1S_uc001qsk.3_Nonsense_Mutation_p.W12*|C1S_uc001qsl.3_Nonsense_Mutation_p.W12*|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	12					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.W12*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTTTTGGCATGGGTTTATGCT	0.493000														22			14		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355367	175355367	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:175355367G>A	uc001gkp.1	-	5	1659	c.1578C>T	c.(1576-1578)ccC>ccT	p.P526P	TNR_uc009wwu.1_Silent_p.P526P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	526	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCTCGAGGGGGAATCCACT	0.542000														13			6		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166964455	166964455	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:166964455G>A	uc003irh.2	+	11	2055	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	TLL1_uc011cjn.2_Missense_Mutation_p.E470K|TLL1_uc011cjo.2_Missense_Mutation_p.E294K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	470	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACGTAAAAATGAAGGACAGAT	0.413000														23			33		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	C	C	rs11554290		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:115256529T>C	uc009wgu.3	-	2	436	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				57			29		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20248868	20248868	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:20248868C>T	uc001bct.1	-	2	267	c.209G>A	c.(208-210)gGg>gAg	p.G70E		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	70					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G70R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGACGCCCGTAGCAGCA	0.607000														7			10		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297376	117297376	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:117297376C>A	uc001egu.4	+	1	214	c.185C>A	c.(184-186)aCt>aAt	p.T62N	CD2_uc010owz.1_Missense_Mutation_p.T62N|CD2_uc010oxa.1_Missense_Mutation_p.T62N	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	62	Ig-like V-type.|LFA-3 (CD58) binding region 1.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGGGAAAAAACTTCAGACAAG	0.343000														11			16		2.23348e-06	2.25455e-06	1	1	0
ERCC6	2074	broad.mit.edu	37	10	50686468	50686468	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:50686468G>A	uc001jhs.4	-	10	2372	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S	ERCC6_uc009xod.3_5'Flank|ERCC6_uc010qgr.2_Missense_Mutation_p.P110S|ERCC6_uc001jhr.4_Missense_Mutation_p.P140S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	740					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTAGGTATGGATTTATGGTA	0.388000								Direct reversal of damage;Nucleotide excision repair (NER)						71			25		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251698	92251698	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:92251698G>A	uc001xzu.4	-	10	1361	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TC2N_uc001xzt.4_Silent_p.F390F|TC2N_uc010auc.3_Silent_p.F326F|TC2N_uc001xzv.4_Silent_p.F390F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	390	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CCACCTTCACGAAAAAACCTA	0.323000														65			52		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762710	176762710	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:176762710C>T	uc001gkz.3	+	19	6199	c.5035C>T	c.(5035-5037)Cca>Tca	p.P1679S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1679	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1679A(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTGTGTTCCCCATTGTGTGT	0.458000														21			12		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949488	27949488	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:27949488C>T	uc003zqv.1	-	6	1832	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	LINGO2_uc010mjf.1_Silent_p.K394K|LINGO2_uc003zqu.1_Silent_p.K394K|LINGO2_uc022bfc.1_Silent_p.K394K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	394	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TATGGAAATCCTTGAAAGACC	0.507000														36			15		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943652	9943652	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:9943652G>A	uc003gmc.3	-	5	760	c.699C>T	c.(697-699)taC>taT	p.Y233Y	SLC2A9_uc003gmd.3_Silent_p.Y204Y	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	233					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.L232F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTCCAAACAGGTATGGCCAGG	0.582000														14			6		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172520438	172520438	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:172520438C>G	uc003fii.2	+	17	1985	c.1847C>G	c.(1846-1848)gCt>gGt	p.A616G	ECT2_uc010hwv.1_Missense_Mutation_p.A647G|ECT2_uc003fih.2_Missense_Mutation_p.A615G|ECT2_uc003fij.1_Missense_Mutation_p.A616G|ECT2_uc003fik.1_Missense_Mutation_p.A616G|ECT2_uc003fil.1_Missense_Mutation_p.A647G|ECT2_uc003fim.1_5'Flank	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	616					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAACAGAAGCTCAAAAGCAA	0.264000														17			6		0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25755923	25755923	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:25755923C>G	uc003abs.3	-	0	2602	c.137G>C	c.(136-138)cGa>cCa	p.R46P	LRP5L_uc011ajz.2_Missense_Mutation_p.R46P|LRP5L_uc010guw.1_Missense_Mutation_p.R46P	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	46										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						ATAGAGGCTTCGGGCCACCCA	0.597000														23			24		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459998	1459998	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:1459998G>A	uc002qwr.3	+	6	849	c.763G>A	c.(763-765)Gga>Aga	p.G255R	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G255R|TPO_uc002qwx.3_Missense_Mutation_p.G255R|TPO_uc002qwu.3_Missense_Mutation_p.G255R|TPO_uc010yio.2_Missense_Mutation_p.G255R|TPO_uc010yip.2_Missense_Mutation_p.G255R	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	255					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G254G(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCTTCGGGGGAGGGGCTGA	0.473000														19			6		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321401	52321402	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:52321401_52321402GG>AA	uc003xqu.4	-	16	2883_2884	c.2782_2783CC>TT	c.(2782-2784)ccc>TTc	p.P928F	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	928					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P127S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTTCCGGAGGGAGGCCAAGGA	0.649000														19			14		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956058	18956058	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:18956058G>A	uc001mpg.3	-	0	492	c.274C>T	c.(274-276)Cat>Tat	p.H92Y		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	92					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGATGGTATGGGGGATACTG	0.517000														53			29		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147863877	147863877	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:147863877G>A	uc021yfj.1	-	5	1189	c.1142C>T	c.(1141-1143)cCa>cTa	p.P381L	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCCTGAGAATGGACCCGCTCT	0.393000														11			9		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592806	125592806	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr4:125592806A>C	uc010inw.3	-	3	2664	c.1626T>G	c.(1624-1626)gaT>gaG	p.D542E	ANKRD50_uc011cgo.2_Missense_Mutation_p.D363E	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	542										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCCCATTTGAATCACACTGAT	0.398000														40			34		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369472	22369472	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:22369472C>T	uc010tzu.2	+	0	995	c.897C>T	c.(895-897)gcC>gcT	p.A299A	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	299					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)		TAAAGGCAGCCATGAGGAAGT	0.348000														52			5		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71743363	71743363	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:71743363C>G	uc010fen.3	+	8	1083	c.942C>G	c.(940-942)atC>atG	p.I314M	DYSF_uc010fei.3_Missense_Mutation_p.I313M|DYSF_uc010feh.3_Missense_Mutation_p.I282M|DYSF_uc002sig.4_Missense_Mutation_p.I282M|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I313M|DYSF_uc010fee.3_Missense_Mutation_p.I282M|DYSF_uc010fef.3_Missense_Mutation_p.I313M|DYSF_uc002sie.3_Missense_Mutation_p.I282M|DYSF_uc010feo.3_Missense_Mutation_p.I314M|DYSF_uc010fej.3_Missense_Mutation_p.I283M|DYSF_uc010fel.3_Missense_Mutation_p.I283M|DYSF_uc010fem.3_Missense_Mutation_p.I283M|DYSF_uc002sif.3_Missense_Mutation_p.I283M|DYSF_uc010fek.3_Missense_Mutation_p.I314M	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	282						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.R313W(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGAGCCCATCTTTATCACGG	0.488000														19			12		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903560	6903560	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:6903560C>T	uc003bqm.2	+	0	759	c.485C>T	c.(484-486)tCc>tTc	p.S162F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.S162F|GRM7_uc003bql.2_Missense_Mutation_p.S162F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	162					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTTCGGTCTCCATCATGGTA	0.602000														25			15		0	0	1	0	0
FBXO22	26263	broad.mit.edu	37	15	76225224	76225224	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:76225224T>C	uc002bbk.3	+	6	1098	c.993T>C	c.(991-993)ttT>ttC	p.F331F	FBXO22_uc002bbl.3_Silent_p.F227F|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	331					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCAGGGGCTTTCAGTATTACA	0.468000														45			20		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14687733	14687733	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:14687733C>T	uc003jfk.3	+	4	724	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	191										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ATTAAAGAGTCCCTTACTCTG	0.423000														49			28		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148905923	148905923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr3:148905923C>T	uc003ewy.4	-	9	2033	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.E375K|CP_uc003ewz.3_Missense_Mutation_p.E594K|CP_uc010hvf.1_Missense_Mutation_p.E320K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	594	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATATTATCTTCCAGGAGTAAA	0.338000														30			27		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169764443	169764443	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:169764443C>T	uc002uem.3	+	4	1014	c.922C>T	c.(922-924)Cat>Tat	p.H308Y	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.H192Y	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	308					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCAGCTCTACCATTTCCTCCA	0.468000														48			44		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080415	152080416	+	Missense_Mutation	DNP	CC	TT	TT	rs71585886		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152080415_152080416CC>TT	uc009wne.1	-	2	5549_5550	c.5277_5278GG>AA	c.(5275-5280)agggaa>agAAaa	p.E1760K	TCHH_uc001ezp.2_Missense_Mutation_p.E1760K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1760	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTTCTTCCCTTTCCGGAC	0.604000														45			25		0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150211183	150211183	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:150211183G>A	uc003qnl.1	-	1	317	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	LOC100652739_uc003qni.2_Intron|RAET1E_uc003qnj.3_Missense_Mutation_p.L62F|RAET1E_uc003qnk.2_Intron|RAET1E_uc010kih.1_Non-coding_Transcript|RAET1E_uc021zgq.1_Missense_Mutation_p.L62F|LOC100652739_uc021zgr.1_5'Flank	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	Homo sapiens retinoic acid early transcript 1E (RAET1E), transcript variant 1, mRNA.	62	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	MHC class I protein complex|integral to membrane	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTGTACTGAAGGAAAAGATTT	0.478000														11			10		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160053229	160053229	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:160053229C>T	uc002uag.3	+	17	3364	c.3090C>T	c.(3088-3090)ccC>ccT	p.P1030P	TANC1_uc010zcm.2_Silent_p.P1022P|TANC1_uc010fom.1_Silent_p.P836P|TANC1_uc010fon.3_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1030						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CGGGTCCTCCCCAGCCAGGCA	0.667000														31			12		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6966275	6966275	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:6966275G>A	uc002knm.3	-	48	7015	c.6921C>T	c.(6919-6921)tcC>tcT	p.S2307S	LAMA1_uc002knl.3_5'Flank|LAMA1_uc010wzj.2_Silent_p.S1783S	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2307	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAAATGGAAGGAAGGGTCTT	0.453000														3			3		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005917	37005917	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:37005917C>T	uc002oee.2	-	3	1146	c.224G>A	c.(223-225)aGa>aAa	p.R75K	ZNF260_uc010eey.2_Missense_Mutation_p.R75K|ZNF260_uc002oef.2_Missense_Mutation_p.R75K|ZNF260_uc002oed.2_Missense_Mutation_p.R75K|ZNF260_uc021uti.1_Missense_Mutation_p.R75K	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	75					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)					TGTGTGACTTCTAAGGTGTAG	0.398000														40			55		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101520688	101520688	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:101520688C>T	uc010svm.1	+	26	3280	c.2708C>T	c.(2707-2709)tCa>tTa	p.S903L	ANO4_uc001thw.2_Missense_Mutation_p.S868L|ANO4_uc001thx.2_Missense_Mutation_p.S903L|ANO4_uc001thy.2_Missense_Mutation_p.S423L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	903						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CACCTCATTTCATATCTGATC	0.443000										HNSCC(74;0.22)				11			12		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980496	110980496	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:110980496C>T	uc003ynr.4	-	2	2128	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	KCNV1_uc010mcw.3_Missense_Mutation_p.E442K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	442						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ACAGCTGCTTCCTTGAGTTTC	0.433000														27			23		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149740	34149740	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:34149740G>A	uc004ddg.3	-	0	708	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	219	Pro-rich.							p.P219L(2)		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						ACTGGACACCGGAGTCTTGGG	0.657000														33			27		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24527380	24527380	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:24527380C>T	uc001wlj.2	+	16	1496	c.1339C>T	c.(1339-1341)Ctc>Ttc	p.L447F		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	447										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GCTTCAGGGCCTCTCCCTCAA	0.657000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		15			12		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116525977	116525977	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:116525977C>T	uc002tle.3	+	12	1251	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	DPP10_uc002tla.2_Silent_p.I406I|DPP10_uc002tlb.2_Silent_p.I356I|DPP10_uc002tlc.2_Silent_p.I402I|DPP10_uc002tlf.2_Silent_p.I399I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	406					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.R409W(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTTCCTCATCCAGGTAAGTG	0.473000														10			15		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797546	148797547	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chrX:148797546_148797547GG>AA	uc004fdq.3	+	4	555_556	c.400_401GG>AA	c.(400-402)ggc>AAc	p.G134N	MAGEA11_uc004fdr.3_Missense_Mutation_p.G105N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	134						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGAAGACCTGGGCCTGGTGGGT	0.569000														9			18		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									57			4		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111291243	111291243	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:111291243C>T	uc001trv.1	+	2	239	c.44C>T	c.(43-45)cCc>cTc	p.P15L	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_5'UTR|CCDC63_uc001trw.1_Intron	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	15								p.P15P(1)		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						TCCGACACTCCCCAGGAACCT	0.577000														15			13		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173490	126173490	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:126173490G>A	uc003vlr.2	-	7	2257	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.S649F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	649					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S649F(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCGTCGGAAGGAGCATATGAT	0.453000										HNSCC(24;0.065)				41			9		0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118106264	118106264	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:118106264G>A	uc001psm.3	-	3	494	c.492C>T	c.(490-492)atC>atT	p.I164I	MPZL3_uc010rxy.2_Silent_p.I152I|MPZL3_uc010rxz.2_Non-coding_Transcript|MPZL3_uc009yzy.3_Intron	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN	Homo sapiens myelin protein zero-like 3 (MPZL3), mRNA.	164					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CAAAGACAAGGATGGAAAGAA	0.532000														47			24		0	0	1	0	0
ZNF850	342892	broad.mit.edu	37	19	37240154	37240154	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:37240154T>C	uc010efc.3	-	4	1947	c.1788A>G	c.(1786-1788)aaA>aaG	p.K596K	ZNF850_uc010xtm.2_Silent_p.K562K	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CAGTAAAAGATTTTCCACATT	0.393000														1			8		0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832821	101832821	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:101832821C>T	uc001pgm.3	+	5	1325	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	KIAA1377_uc001pgn.3_Missense_Mutation_p.P308L|KIAA1377_uc010run.2_Missense_Mutation_p.P153L|KIAA1377_uc009yxa.1_Missense_Mutation_p.P153L	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	352							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AATCCATCTCCTTTGAATGGA	0.333000														22			15		0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895258	230895258	+	Splice_Site	SNP	G	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:230895258G>C	uc001htz.1	+	3	397	c.284_splice	c.e3-1	p.G95_splice	CAPN9_uc009xfg.1_Intron|CAPN9_uc001hua.1_Splice_Site_p.G95_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	95	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CATTTTGCAGGAGACTGCTGG	0.488000														31			18		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29556474	29556474	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:29556474C>T	uc002hgg.3	+	20	3224	c.2841C>T	c.(2839-2841)tcC>tcT	p.S947S	NF1_uc002hgh.3_Silent_p.S947S|NF1_uc010csn.2_Silent_p.S807S|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	947					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTTGACTCCCAAGGACAGG	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				44			21		0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28793236	28793236	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:28793236C>T	uc001bpy.3	+	4	1045	c.810C>T	c.(808-810)atC>atT	p.I270I	PHACTR4_uc001bpu.3_Silent_p.I260I|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.I260I|PHACTR4_uc001bpx.3_Silent_p.I244I	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	260	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCCTATCCCTCCCCCTA	0.522000														46			28		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102227	58102227	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:58102227C>T	uc002qpg.3	+	3	1145	c.1048C>T	c.(1048-1050)Cct>Tct	p.P350S	ZIK1_uc002qph.3_Missense_Mutation_p.P295S|ZIK1_uc002qpi.3_Missense_Mutation_p.P337S|ZIK1_uc002qpj.3_Missense_Mutation_p.P247S	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGAGAAAGGCCTTATAAGTG	0.448000														30			27		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104490940	104490940	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:104490940C>T	uc001yom.4	+	24	2671	c.2641C>T	c.(2641-2643)Cct>Tct	p.P881S	TDRD9_uc001yon.4_Missense_Mutation_p.P619S	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	881					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GACGGTAGATCCTATGCAAGT	0.353000														42			14		0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44030264	44030264	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr18:44030264C>T	uc002lcb.1	+	4	672	c.621C>T	c.(619-621)gtC>gtT	p.V207V	RNF165_uc002lby.1_Silent_p.V140V|RNF165_uc010dnn.1_Silent_p.V3V	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	207							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		AACAGGTCGTCCATGAAATCC	0.522000														22			20		0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223988497	223988497	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:223988497G>A	uc001hod.3	-	10	1665	c.854C>T	c.(853-855)cCa>cTa	p.P285L	TP53BP2_uc010pvb.2_Missense_Mutation_p.P414L|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.P53L	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	408					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGGGCCAACTGGATGGATTTT	0.398000														18			10		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297720	124297720	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:124297720C>T	uc001uft.4	+	18	2825	c.2800C>T	c.(2800-2802)Cgt>Tgt	p.R934C	DNAH10_uc010tav.1_Missense_Mutation_p.R476C|DNAH10_uc010taw.1_Missense_Mutation_p.R419C	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	934	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCATTTTGTTCGTTGGATGAA	0.378000														20			8		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695675	196695675	+	Missense_Mutation	SNP	G	A	A	rs143237092		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:196695675G>A	uc001gtj.4	+	12	2189	c.1949G>A	c.(1948-1950)gGa>gAa	p.G650E	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	650	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAGAATATGGACACAGTGAA	0.363000														25			22		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439656	52439656	+	RNA	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr13:52439656G>A	uc010tgr.1	-	0		c.564C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.E48K|CCDC70_uc021rjv.1_Missense_Mutation_p.E48K			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GCTGCAGGAGGAAAAGGCTTT	0.507000														9			66		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064566	9064566	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:9064566G>T	uc002mkp.3	-	2	23084	c.22880C>A	c.(22879-22881)cCt>cAt	p.P7627H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7629	Ser-rich.|Thr-rich.				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						AGACTCCGAAGGACCTGTTTG	0.463000														25			22		3.10358e-05	3.12696e-05	1	1	0
CSF2RB	1439	broad.mit.edu	37	22	37333850	37333851	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr22:37333850_37333851CC>TT	uc003aqa.4	+	13	2217_2218	c.2000_2001CC>TT	c.(1999-2001)tcc>tTT	p.S667F	CSF2RB_uc003aqc.4_Missense_Mutation_p.S673F	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	667					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGAGTCCCTCCCTGGAGTCCG	0.683000														4			5		0	0	1	0	0
CYBA	1535	broad.mit.edu	37	16	88713210	88713210	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:88713210G>A	uc002flb.3	-	3	276	c.240C>T	c.(238-240)ttC>ttT	p.F80F	CYBA_uc002flc.1_5'Flank|CYBA_uc002fld.1_Silent_p.F80F|CYBA_uc010chx.1_Silent_p.F80F	NM_000101	NP_000092	P13498	CY24A_HUMAN	Homo sapiens cytochrome b-245, alpha polypeptide (CYBA), mRNA.	80					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	SH3 domain binding|electron carrier activity|heme binding|protein heterodimerization activity			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TAAAGGGCCCGAACAGCTTCA	0.652000														10			21		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792192	8792192	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:8792192G>A	uc002glt.3	-	9	979	c.912C>T	c.(910-912)atC>atT	p.I304I	PIK3R5_uc010vuz.2_Silent_p.I304I|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	304				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CCTTGAGCAGGATTTCCTGCA	0.582000														18			7		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447872	63447872	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:63447872C>T	uc001xfx.3	-	5	711	c.660G>A	c.(658-660)gtG>gtA	p.V220V	KCNH5_uc001xfy.3_Silent_p.V220V|KCNH5_uc001xfz.1_Silent_p.V162V|KCNH5_uc001xga.3_Silent_p.V162V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	220					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAATTAAAATCACCCAATCCC	0.393000														19			19		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152185609	152185609	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:152185609A>G	uc001ezt.1	-	2	8572	c.8496T>C	c.(8494-8496)ccT>ccC	p.P2832P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2832					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGCTACTAGGAAAACTGA	0.393000														30			12		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2530228	2530228	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:2530228C>T	uc001ajy.2	-	12	1256	c.1042_splice	c.e12-1	p.G348_splice	MMEL1_uc009vlg.1_Splice_Site	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	348					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCAGTTAAATCCCTGCAGATA	0.488000														13			9		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48750989	48750989	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:48750989G>A	uc002isl.3	+	18	2649	c.2569G>A	c.(2569-2571)Gac>Aac	p.D857N		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	857					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCCGATGAGGACCAAGGGCA	0.612000														19			13		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471750	92471750	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr14:92471750G>A	uc001xzy.3	-	10	2944	c.2570C>T	c.(2569-2571)tCc>tTc	p.S857F	TRIP11_uc010auf.2_Missense_Mutation_p.S593F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	857					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTCTTTCATGGATCCAAGACT	0.413000			T	PDGFRB	AML									26			20		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870675	51870675	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr20:51870675C>T	uc002xwo.3	+	1	1565	c.678C>T	c.(676-678)acC>acT	p.T226T	TSHZ2_uc021wex.1_Silent_p.T223T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCTATGACACCCTAGTCGAGC	0.557000														14			16		0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162022	45162022	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:45162022G>T	uc002ozm.3	+	5	1303	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I	PVR_uc010ejs.3_Missense_Mutation_p.S335I|PVR_uc010xxb.2_Intron|PVR_uc010xxc.2_Missense_Mutation_p.S335I|PVR_uc002ozn.3_Missense_Mutation_p.S280I	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	335					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGACCTCCCAGTGAGCACTCA	0.463000														40			46		1.21353e-23	1.24614e-23	1	1	0
AQP6	363	broad.mit.edu	37	12	50368136	50368136	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:50368136G>A	uc001rvr.1	+	1	1125	c.432G>A	c.(430-432)gcG>gcA	p.A144A	AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	144					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGGCCAGGCGGTGGCAGTGG	0.622000											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			31		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121642895	121642895	+	Silent	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr6:121642895C>T	uc003pyo.1	-	1	269	c.201G>A	c.(199-201)ttG>ttA	p.L67L	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	67					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TCATAGAACCCAAAGTGTTGC	0.353000														42			28		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296432	62296432	+	Silent	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr11:62296432A>G	uc001ntl.3	-	4	5757	c.5457T>C	c.(5455-5457)ggT>ggC	p.G1819G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1819					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)				CCACAAAAGGACCTTTGACAT	0.502000														79			50		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043813	71043813	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:71043813C>T	uc002shf.3	-	3	777	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	CLEC4F_uc010yqv.1_Missense_Mutation_p.E234K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	234					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTGCCGTTTCCAAACTGGCA	0.408000														19			22		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627314	140627314	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140627314G>A	uc003lje.3	+	0	2168	c.2168G>A	c.(2167-2169)gGt>gAt	p.G723D		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	723					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCAGTGGGTCGCTGCTCG	0.652000														119			69		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857384	9857384	+	Silent	SNP	T	C	C			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr16:9857384T>C	uc010uym.2	-	13	4327	c.4017A>G	c.(4015-4017)aaA>aaG	p.K1339K	GRIN2A_uc002czo.4_Silent_p.K1339K|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1339					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAGCTTTTTTTCCCCGAGA	0.557000														28			25		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518837	73518837	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:73518837G>A	uc010yrj.2	-	1	1593	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	EGR4_uc010yrk.1_Silent_p.I505I	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	402						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCCCGTGTGGATGCGCAGGT	0.677000														32			18		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182412343	182412343	+	Splice_Site	SNP	A	G	G			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr2:182412343A>G	uc002unx.3	-	11	1447	c.1346_splice	c.e11+1	p.R449_splice	CERKL_uc010frk.3_Splice_Site|CERKL_uc002uny.3_Splice_Site_p.R423_splice|CERKL_uc010zfm.2_Splice_Site_p.R405_splice|CERKL_uc002unz.3_Splice_Site_p.R171_splice|CERKL_uc002uoa.3_Splice_Site_p.R354_splice|CERKL_uc002uob.3_Splice_Site_p.R171_splice|CERKL_uc002uoc.3_Splice_Site_p.R310_splice|CERKL_uc021vth.1_Splice_Site_p.R218_splice|CERKL_uc021vti.1_Splice_Site_p.R171_splice|CERKL_uc021vtj.1_Splice_Site_p.R126_splice|CERKL_uc021vtk.1_Splice_Site_p.R171_splice|CERKL_uc021vtl.1_Splice_Site_p.R126_splice|CERKL_uc021vtm.1_Splice_Site_p.R218_splice|CERKL_uc002uod.2_Splice_Site_p.R218_splice|CERKL_uc002unw.3_Intron	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	449					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGCTTACTAACCTGGTATTA	0.388000														24			15		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666048	131666048	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr10:131666048C>T	uc021qav.1	-	8	942	c.841G>A	c.(841-843)Gag>Aag	p.E281K	EBF3_uc001lki.2_Missense_Mutation_p.E295K	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	304	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGCTTACCTCGCTCCACACC	0.527000														14			10		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192469	132192469	+	Silent	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr7:132192469G>A	uc003vra.4	-	1	1213	c.984C>T	c.(982-984)gtC>gtT	p.V328V	PLXNA4_uc003vrc.2_Silent_p.V328V|PLXNA4_uc003vrb.3_Silent_p.V328V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	328	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCTGGATGGACTCCAAGGG	0.592000														21			28		0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35791163	35791163	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:35791163G>A	uc002nyy.2	+	5	1024	c.826G>A	c.(826-828)Gac>Aac	p.D276N	MAG_uc002nyx.2_Missense_Mutation_p.D276N|MAG_uc010eds.2_Missense_Mutation_p.D251N|MAG_uc002nyz.2_Missense_Mutation_p.D276N	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	276	Ig-like C2-type 2.				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)			CTGGATGCGGGACGGGACAGT	0.687000														13			4		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637421	23637432	+	In_Frame_Del	DEL	ACCATAGTAATC	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:23637421_23637432delACCATAGTAATC	uc001bgr.4	-	10	1576_1587	c.1417_1428delGATTACTATGGT	c.(1417-1428)gattactatggtdel	p.DYYG473del	HNRNPR_uc001bgo.3_In_Frame_Del_p.DYYG83del|HNRNPR_uc010odw.2_In_Frame_Del_p.DYYG435del|HNRNPR_uc009vql.3_In_Frame_Del_p.DYYG334del|HNRNPR_uc001bgp.4_In_Frame_Del_p.DYYG476del|HNRNPR_uc001bgs.4_In_Frame_Del_p.DYYG372del|HNRNPR_uc009vqk.3_In_Frame_Del_p.DYYG375del|HNRNPR_uc010odx.2_In_Frame_Del_p.DYYG313del	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	473	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding	p.G476C(3)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GATAATCATAACCATAGTAATCATCATAGTAA	0.505													---	79	---	---	43	---					
NBPF10	100132406	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	AG	AG	rs10625215		TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTAAACCTCAAAGAGATGTTTT	0.470													---	12	---	---	6	---					
PGBD2	267002	broad.mit.edu	37	1	249211273	249211274	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr1:249211273_249211274delTA	uc001ifh.3	+	2	637_638	c.490_491delTA	c.(490-492)tatfs	p.Y164fs	PGBD2_uc001ifg.3_Intron|PGBD2_uc009xhd.3_Frame_Shift_Del_p.Y161fs|PGBD2_uc021pmh.1_5'Flank	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	164										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACCAATCGTTATGCTTGGCAG	0.376													---	53	---	---	44	---					
PCDHGC5	56097	broad.mit.edu	37	5	140795209	140795209	+	Frame_Shift_Del	DEL	A	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr5:140795209delA	uc011day.2	+	0	2467	c.2467delA	c.(2467-2469)aaafs	p.K823fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_032090	NP_114479	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 2, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTTTGTTAAAAAAAAAAA	0.313													---	4	---	---	2	---					
MFSD3	113655	broad.mit.edu	37	8	145735775	145735777	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr8:145735775_145735777delCTC	uc003zdi.1	+	1	880_882	c.715_717delCTC	c.(715-717)ctcdel	p.L241del		NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	Homo sapiens major facilitator superfamily domain containing 3 (MFSD3), mRNA.	241	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTTCCTCTTCTCCTGCTGGACC	0.640													---	94	---	---	17	---					
CD63	967	broad.mit.edu	37	12	56120745	56120746	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:56120745_56120746insAA	uc001shn.3	-	3	443_444	c.258_259insTT	c.(256-261)tttgccfs	p.F86fs	CD63_uc009znz.3_Frame_Shift_Ins_p.F63fs|CD63_uc001sho.3_Frame_Shift_Ins_p.F86fs	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	86					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AGAAAGATGGCAAACTGCAGGA	0.515													---	79	---	---	40	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr12:132281734_132281736delAGA	uc001uja.1	+	15	2686_2688	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													---	172	---	---	7	---					
CSPG4	1464	broad.mit.edu	37	15	75980196	75980197	+	Frame_Shift_Ins	INS	-	GCCAC	GCCAC			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr15:75980196_75980197insGCCAC	uc002baw.3	-	2	3302_3303	c.3209_3210insGTGGC	c.(3208-3210)gccfs	p.A1070fs		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1070	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTCATCTACGGCCACGATACT	0.619													---	77	---	---	11	---					
GP1BA	2811	broad.mit.edu	37	17	4837358	4837359	+	RNA	DEL	CT	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr17:4837358_4837359delCT	uc021toc.1	-	0		c.498_499delAG			GP1BA_uc021tnz.1_Frame_Shift_Del_p.L487fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.L487fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						ACCCGTATCACTCTTAGAATCC	0.500													---	25	---	---	22	---					
CAMSAP3	57662	broad.mit.edu	37	19	7677563	7677563	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:7677563delG	uc002mgu.4	+	12	2366	c.2265delG	c.(2263-2265)ctgfs	p.L755fs	CAMSAP3_uc002mgv.4_Frame_Shift_Del_p.L728fs|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	728	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCGGCTCCTGGCCCCGCCCG	0.721													---	4	---	---	2	---					
NUMBL	9253	broad.mit.edu	37	19	41173866	41173868	+	In_Frame_Del	DEL	TGC	-	-			TCGA-D9-A4Z3-01A-11D-A25O-08	TCGA-D9-A4Z3-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	F1AFC678-EFCB-45AD-85C3-25D40EEA7117	3BACFA26-6DB7-45CC-84FE-8ECFC3B9A3A4	g.chr19:41173866_41173868delTGC	uc002oon.3	-	9	1503_1505	c.1335_1337delGCA	c.(1333-1338)cagcaa>caa	p.445_446QQ>Q	NUMBL_uc010xvq.2_In_Frame_Del_p.404_405QQ>Q|NUMBL_uc010xvr.2_In_Frame_Del_p.404_405QQ>Q|NUMBL_uc002ooo.3_In_Frame_Del_p.444_445QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	445	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGAGgctgcttgctgctgttgct	0.670													---	4	---	---	2	---					
