Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													21	137					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742831	51742831	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:51742831C>T	ENST00000262262.4	+	7	1004	c.983C>T	c.(982-984)gCc>gTc	p.A328V	CD33_ENST00000421133.2_Missense_Mutation_p.A201V|CD33_ENST00000600557.1_3'UTR	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	328					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)	TGTTCAGGTGCCGCCCCTACT	0.517000													11	31					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895368	42895368	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:42895368C>T	ENST00000399770.2	+	1	85	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	29					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGGGCGAGTTCTGAAGGAAGT	0.522000													37	74					0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34894046	34894046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:34894046C>T	ENST00000592983.1	+	2	1676	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	PIGW_ENST00000328396.2_Nonsense_Mutation_p.R366*|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	366					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGCAGTATCTCGAAGAATGGC	0.343000													4	65					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2111719	2111719	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:2111719C>T	ENST00000355272.6	-	25	3102	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	AP3D1_ENST00000350812.6_Missense_Mutation_p.E735K|AP3D1_ENST00000345016.5_Missense_Mutation_p.E904K|AP3D1_ENST00000356926.4_Missense_Mutation_p.E863K	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	904					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGCACCGGCTCCCCCGCTGCC	0.662000													4	8					0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143085644	143085644	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:143085644C>G	ENST00000322764.5	+	7	1552	c.1207C>G	c.(1207-1209)Cag>Gag	p.Q403E	ZYX_ENST00000392910.2_Missense_Mutation_p.Q246E|ZYX_ENST00000449423.2_Missense_Mutation_p.Q316E	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	403	LIM zinc-binding 1.				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCTCTAGGGCAGCTGTTCCA	0.642000													26	84					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88070744	88070744	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:88070744G>A	ENST00000524463.1	-	1	185	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Missense_Mutation_p.L33F|CTSC_ENST00000227266.5_Missense_Mutation_p.L33F	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	33					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCAGGTCAAGATAGGTGCAG	0.672000													5	6					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072707	98072707	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:98072707G>A	ENST00000354924.2	+	1	10	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATGGCTAGGGAAAATCACTC	0.393000													4	82					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258366	25258366	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:25258366C>T	ENST00000328086.7	-	5	1954	c.1151G>A	c.(1150-1152)tGt>tAt	p.C384Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGAAGCCACATTCTCGCAA	0.483000													94	72					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283577	152283577	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152283577G>C	ENST00000368799.1	-	3	3820	c.3785C>G	c.(3784-3786)aCa>aGa	p.T1262R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1262	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)			GTGCCTGCTTGTCCTGGACCC	0.567000									Ichthyosis				87	771					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866549	42866549	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:42866549G>A	ENST00000334370.4	+	33	6292	c.5657G>A	c.(5656-5658)cGc>cAc	p.R1886H	MEGF8_ENST00000251268.6_Missense_Mutation_p.R1953H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1953	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCACCCCCCGCTGTAAGTGG	0.607000													74	95					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343646	248343646	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:248343646A>G	ENST00000359682.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTATGGCTTATGACCGCTAT	0.413000													53	215					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27141436	27141436	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:27141436G>A	ENST00000354828.3	+	10	1785	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	GABPA_ENST00000400075.3_Missense_Mutation_p.E420K	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	420					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						TTTGGTCACAGAATGTGAACA	0.448000													38	102					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42689121	42689121	+	Splice_Site	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:42689121G>T	ENST00000230882.4	+	4	456	c.266G>T	c.(265-267)aGg>aTg	p.R89M	GHR_ENST00000537449.1_Intron|GHR_ENST00000357703.3_Splice_Site_p.R67M	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	89			R -> K (in LARS).		2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TATACCAGAAGGTGCCACCAT	0.453000													19	111					6.49762e-13	7.26371e-13	1	1	0
CYP2E1	1571	broad.mit.edu	37	10	135350635	135350635	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:135350635G>C	ENST00000463117.2	+	9	1308	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	CYP2E1_ENST00000252945.3_Missense_Mutation_p.E346Q|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	346					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGATAGGCAAGAGATGCCCTA	0.517000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				13	41					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872504	51872504	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:51872504C>A	ENST00000371497.5	+	2	3394	c.2507C>A	c.(2506-2508)tCa>tAa	p.S836*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.S833*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.S833*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	836					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)			AGTGAAGTCTCAACTTTGCAT	0.537000													4	128					0.150653	0.15244	1	1	0
SPATA20	64847	broad.mit.edu	37	17	48628894	48628894	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:48628894T>C	ENST00000006658.6	+	13	1719	c.1599T>C	c.(1597-1599)gcT>gcC	p.A533A	SPATA20_ENST00000393244.3_Silent_p.A473A|SPATA20_ENST00000356488.4_Silent_p.A517A|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	517					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CAGGCTATGCTGTGACTGGGG	0.582000													12	82					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883062	4883062	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4883062G>A	ENST00000361571.5	-	8	1963	c.1552C>T	c.(1552-1554)Cca>Tca	p.P518S	CAMTA2_ENST00000358183.4_Missense_Mutation_p.P519S|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P524S|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P542S|CAMTA2_ENST00000381311.5_Missense_Mutation_p.P521S|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P519S	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	519					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGATGCTTGGAGCTTCGTCA	0.557000													45	109					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43321769	43321769	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr21:43321769G>A	ENST00000380486.3	-	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	C2CD2_ENST00000329623.7_Missense_Mutation_p.R353W	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	508						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTTTTCTTCCGTGGCGACTTG	0.498000													22	56					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903549	6903549	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:6903549G>A	ENST00000486284.1	+	1	748	c.474G>A	c.(472-474)ggG>ggA	p.G158G	GRM7_ENST00000402647.2_Silent_p.G158G|GRM7_ENST00000357716.4_Silent_p.G158G|GRM7_ENST00000403881.1_Silent_p.G158G|GRM7_ENST00000389336.4_Silent_p.G158G	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	158					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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|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)	GGGCTTCGGGGAGTTCGGTCT	0.612000													17	82					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170653	207170653	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207170653G>A	ENST00000374423.3	+	5	1787	c.1401G>A	c.(1399-1401)atG>atA	p.M467I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	467							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						AATCCCAAATGATTGTTAAAG	0.323000													11	19					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	18					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406198	144406198	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:144406198G>A	ENST00000523676.1	-	8	1042	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R213W|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R213W|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R311W			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	311					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCCACCGCCCGCTGTCTCGTC	0.582000													66	48					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103426018	103426018	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:103426018T>C	ENST00000361246.2	-	21	3139	c.2851A>G	c.(2851-2853)Att>Gtt	p.I951V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	951					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)		TACTCAAAAATGGAATCCTGA	0.333000													15	4					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97368447	97368447	+	RNA	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:97368447C>T	ENST00000457909.1	+	0	4869							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GACTACCTGGCGGCGGAGCGC	0.612000													8	23					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128662	147128662	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:147128662C>A	ENST00000282928.4	+	1	1492	c.763C>A	c.(763-765)Cac>Aac	p.H255N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	255					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCTAGTTACGCACGTCACCGT	0.557000													67	107					1.08241e-25	1.26528e-25	1	1	0
SPAG8	26206	broad.mit.edu	37	9	35811307	35811307	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:35811307C>T	ENST00000340291.2	-	2	860	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	SPAG8_ENST00000484764.1_Missense_Mutation_p.E244K|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Missense_Mutation_p.E246K	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	246						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGCAAAAATTCCCAAGGTGGT	0.532000													10	345					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130265127	130265127	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:130265127G>A	ENST00000323301.4	+	25	2725	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	LRSAM1_ENST00000373322.1_Silent_p.P707P|LRSAM1_ENST00000373324.4_Silent_p.P680P|LRSAM1_ENST00000300417.6_Silent_p.P707P|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	707					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCACCTGCCCGCTGTGCCGCC	0.682000													10	7					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25062800	25062800	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:25062800C>T	ENST00000260600.5	-	6	2148	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D44N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.D433N(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACCACACGTCGTACTGCCAG	0.642000													4	121					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69626162	69626162	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:69626162C>T	ENST00000374403.3	+	27	3112	c.3030C>T	c.(3028-3030)acC>acT	p.T1010T	KIF4A_ENST00000374388.3_Silent_p.T1010T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1010	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CTAAGGATACCCTTCTATCTC	0.443000													41	6					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142409489	142409489	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:142409489G>A	ENST00000258042.1	-	1	447	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	103					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AAGAAGTAGCGCGAGGCGTCC	0.602000													75	13					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119784	3119784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:3119784G>A	ENST00000304094.1	+	1	870	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTACAGTCTGAGAAATCGGG	0.463000													38	104					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832186	44832186	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44832186G>A	ENST00000354340.4	-	4	2175	c.2124C>T	c.(2122-2124)gtC>gtT	p.V708V	ZNF112_ENST00000337401.4_Silent_p.V714V|ZNF112_ENST00000536500.1_Silent_p.V731V	NM_013380.3	NP_037512.3			zinc finger protein 112																		CTCCAGAATGGACACTCTGAT	0.463000													32	104					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831632	7831632	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7831632C>G	ENST00000327325.5	+	5	993	c.875C>G	c.(874-876)tCc>tGc	p.S292C	CLEC4M_ENST00000334806.5_Missense_Mutation_p.S241C|CLEC4M_ENST00000596363.1_Missense_Mutation_p.S264C|CLEC4M_ENST00000248228.4_Missense_Mutation_p.S270C|CLEC4M_ENST00000359059.5_Missense_Mutation_p.S225C|CLEC4M_ENST00000394122.2_Missense_Mutation_p.S280C|CLEC4M_ENST00000357361.2_Missense_Mutation_p.S292C|CLEC4M_ENST00000596707.1_Missense_Mutation_p.S225C|CLEC4M_ENST00000597522.1_Missense_Mutation_p.S200C|CLEC4M_ENST00000595496.1_Missense_Mutation_p.S156C	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	292	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCACGACTCCGTCACCGCC	0.597000													22	102					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542251	133542251	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:133542251C>A	ENST00000409261.1	-	14	2506	c.2133G>T	c.(2131-2133)gaG>gaT	p.E711D	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E711D|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	711							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGTAAAAGCTCAGTATGTT	0.433000													30	111					1.16021e-09	1.26389e-09	1	1	0
ABHD11	83451	broad.mit.edu	37	7	73153094	73153094	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:73153094G>A	ENST00000222800.3	-	1	103	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000458339.1_Missense_Mutation_p.R12C|ABHD11_ENST00000395147.4_Missense_Mutation_p.R12C|ABHD11_ENST00000437775.2_Missense_Mutation_p.R12C	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	12							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CGGGTCCAGCGGAGCATGCTT	0.706000													8	26					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99997420	99997420	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:99997420G>A	ENST00000198536.2	+	7	1014	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PILRA_ENST00000453419.1_Intron|PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.V195I	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	268					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGACGGCATCGTCTATGCTTC	0.587000													40	139					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457993	42457993	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:42457993C>T	ENST00000262407.5	-	14	1445	c.1414G>A	c.(1414-1416)Ggg>Agg	p.G472R	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G472R|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	472					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.G472R(1)		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)	TGGTTGGCCCCGTAAGCTCCC	0.597000													40	59					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967470	4967470	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:4967470C>T	ENST00000380373.2	-	1	886	c.861G>A	c.(859-861)ctG>ctA	p.L287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGTTCGTCAGTGGAGGTA	0.428000													33	59					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847805	22847805	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:22847805G>T	ENST00000456783.2	+	4	1578	c.1334G>T	c.(1333-1335)gGa>gTa	p.G445V		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTCATACTGGAGAGAAGCCC	0.378000													26	47					2.12542e-12	2.36568e-12	1	1	0
RB1	5925	broad.mit.edu	37	13	49050981	49050981	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:49050981T>C	ENST00000267163.4	+	25	2801		c.e25+2		RB1_ENST00000484879.1_Splice_Site	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGATGGAAGGTAGGAACCAGT	0.453000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			25	74					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64875732	64875732	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:64875732G>A	ENST00000331710.5	+	8	1262	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	308	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		ATACTTCACCGAATGGTAATT	0.348000													10	27					0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881790	50881790	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:50881790G>A	ENST00000253727.5	+	6	719	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	NR1H2_ENST00000411902.2_Missense_Mutation_p.E65K|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000593926.1_Missense_Mutation_p.E162K|NR1H2_ENST00000599105.1_Missense_Mutation_p.E162K|NR1H2_ENST00000598168.1_Missense_Mutation_p.E162K	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	162					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CGTCCTTTCTGAAGAACAGAT	0.647000													21	98					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449114	35449114	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:35449114G>A	ENST00000404801.1	-	4	2031	c.1645C>T	c.(1645-1647)Ctg>Ttg	p.L549L	ZNF792_ENST00000605484.1_Silent_p.L482L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCTGCCTCAGATTGGACCTC	0.527000													13	37					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060168	71060168	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:71060168C>T	ENST00000410009.3	-	4	625	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	194					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGAGAAACCACCTGTAGAATA	0.453000													27	18					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139750013	139750013	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:139750013G>A	ENST00000445819.1	+	12	1463	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	MAMDC4_ENST00000317446.2_Silent_p.P471P|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	471	LDL-receptor class A 3.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTGTGCCCCCGGAACAACTGT	0.701000													3	10					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206872144	206872144	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:206872144C>T	ENST00000403263.1	-	10	2186	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	594					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CATCAGCACTCAGCTCTGGCG	0.498000													8	165					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107546721	107546721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:107546721G>A	ENST00000205402.5	+	8	873	c.592G>A	c.(592-594)Gat>Aat	p.D198N	DLD_ENST00000537148.1_Missense_Mutation_p.D99N|DLD_ENST00000437604.2_Missense_Mutation_p.D150N|DLD_ENST00000440410.1_Missense_Mutation_p.D175N	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	198					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GATAGATGAAGATACAATAGT	0.328000													8	25					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228784	142228784	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:142228784C>T	ENST00000519067.1	-	4	1105	c.802G>A	c.(802-804)Gac>Aac	p.D268N	SLC45A4_ENST00000433583.2_Missense_Mutation_p.D261N|SLC45A4_ENST00000024061.3_Missense_Mutation_p.D268N|SLC45A4_ENST00000517878.1_Missense_Mutation_p.D319N			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	319					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493)			GGCTCCAGGTCCAGCGCGGTG	0.672000													39	86					0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10124175	10124175	+	Splice_Site	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:10124175G>A	ENST00000355690.4	+	2	41		c.e2-1		CLEC12A_ENST00000434319.2_5'UTR|CLEC12A_ENST00000304361.4_5'UTR	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A							integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ACTTTGTCAAGATTTCTTTAC	0.318000													23	26					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177436	223177436	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223177436G>A	ENST00000284476.6	+	8	2861	c.2697G>A	c.(2695-2697)agG>agA	p.R899R		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	899					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGCTGGAAAGGAGTACAGGGT	0.493000													27	45					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103249446	103249446	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:103249446G>A	ENST00000376052.3	+	1	74	c.58G>A	c.(58-60)Gag>Aag	p.E20K	TPP2_ENST00000376065.4_Missense_Mutation_p.E20K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	20					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCCGAAGAAGGAGACCGGAGC	0.677000													10	29					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136195	32136195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:32136195C>A	ENST00000312561.4	+	4	2720	c.2306C>A	c.(2305-2307)tCa>tAa	p.S769*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		TTAGTTCTGTCAGAGGTCAAA	0.378000													32	54					2.08457e-15	2.34057e-15	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119020905	119020905	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:119020905G>A	ENST00000307417.3	+	2	594	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R77H|ABCG4_ENST00000449422.2_Missense_Mutation_p.R77H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	77	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTGCTGGCGCAAAAGGGGT	0.622000													48	85					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922042	131922042	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:131922042C>T	ENST00000286355.5	-	6	3644	c.1552G>A	c.(1552-1554)Ggt>Agt	p.G518S	ADCY8_ENST00000377928.3_Missense_Mutation_p.G518S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	518					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAAAACACCGCACAGCACC	0.473000										HNSCC(32;0.087)			63	51					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66845511	66845511	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:66845511G>T	ENST00000341509.5	-	9	1139	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S	LCTL_ENST00000537670.1_Silent_p.S163S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	336					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.S336S(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAAGAAATCGGATGTGCCTT	0.498000													4	130					0.00909568	0.0094271	1	1	0
OTOA	146183	broad.mit.edu	37	16	21696662	21696662	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:21696662G>C	ENST00000388958.3	+	6	380	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	OTOA_ENST00000286149.4_Missense_Mutation_p.E127Q|OTOA_ENST00000388956.4_Missense_Mutation_p.E48Q	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	127					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)		ATGCCTCTTAGAAGACAAGAA	0.557000													5	56					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577084T>A	ENST00000420246.2	-	8	986	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000269305.4_Missense_Mutation_p.E285V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATTCTCTTCCTCTGTGCGCCG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	36					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229572	140229572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:140229572C>T	ENST00000378122.3	+	1	2216	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R498W|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.672000													72	77					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100731304	100731304	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:100731304G>A	ENST00000306085.6	+	3	1008	c.711G>A	c.(709-711)gaG>gaA	p.E237E		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	237					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAGGGTGGAGAAGGAGGCGC	0.726000													3	9					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597029	39597029	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:39597029C>T	ENST00000246646.3	-	1	144	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	49	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCATGTGCCACGTTGGCCAAA	0.632000													10	120					0	0	1	0	0
CALML6	163688	broad.mit.edu	37	1	1848429	1848429	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:1848429G>T	ENST00000307786.3	+	5	869	c.415G>T	c.(415-417)Gca>Tca	p.A139S	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	139	EF-hand 3.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTAATGAACGCAGGGGAGCC	0.667000													20	43					8.34094e-07	8.82347e-07	1	1	0
ZNF468	90333	broad.mit.edu	37	19	53344325	53344325	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:53344325C>T	ENST00000595646.1	-	4	1342	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000396409.4_Missense_Mutation_p.E355K|ZNF468_ENST00000390651.4_Missense_Mutation_p.E355K|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TAAGGTTTCTCTCCACTATGA	0.388000													29	110					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93611935	93611935	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:93611935C>T	ENST00000394236.3	-	10	1313	c.997G>A	c.(997-999)Gat>Aat	p.D333N	PROS1_ENST00000407433.1_Missense_Mutation_p.D202N	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	333	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTTCTGAATCATATGTCCGG	0.383000													5	34					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517872	172517872	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:172517872A>G	ENST00000540014.1	+	4	1009	c.690A>G	c.(688-690)gaA>gaG	p.E230E	CREBRF_ENST00000522692.1_Silent_p.E230E|CREBRF_ENST00000296953.2_Silent_p.E230E|CREBRF_ENST00000520420.1_Silent_p.E230E			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	230							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										TTCATGTTGAATGTAAAGACT	0.413000													31	13					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70488833	70488833	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70488833G>A	ENST00000310961.5	+	18	1889	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.E486K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	486						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCCCCCTGGGAAAGGGGCCA	0.517000													18	71					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165350941	165350941	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:165350941T>C	ENST00000263915.3	-	13	2014	c.1476A>G	c.(1474-1476)ccA>ccG	p.P492P	GRB14_ENST00000543549.1_Splice_Site_p.P405P|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	492	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AATTACTTACTGGTATAATTT	0.323000													33	38					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41622709	41622709	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:41622709G>T	ENST00000319349.5	-	3	385	c.87C>A	c.(85-87)cgC>cgA	p.R29R	ETV4_ENST00000538265.1_5'UTR|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000545089.1_Silent_p.R29R|ETV4_ENST00000393664.2_Silent_p.R29R|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000591713.1_Silent_p.R29R	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	29					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TCAGCGCTTCGCGCAAGCTCC	0.652000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								10	7					0.38729	0.38729	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107433641	107433641	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:107433641T>A	ENST00000334504.7	-	20	1640	c.1407A>T	c.(1405-1407)ctA>ctT	p.L469L	COL4A6_ENST00000538570.1_Silent_p.L469L|COL4A6_ENST00000545689.1_Silent_p.L469L|COL4A6_ENST00000372216.4_Silent_p.L470L|COL4A6_ENST00000394872.2_Silent_p.L470L	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	470	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTTTGAGGCCTAGGTTTCCTT	0.453000									Alport syndrome with Diffuse Leiomyomatosis				42	14					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156500962	156500962	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:156500962G>A	ENST00000361170.2	-	33	4191	c.4181C>T	c.(4180-4182)tCc>tTc	p.S1394F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1394					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGCTCTCTGGAAGCCGAGAG	0.582000													42	267					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149512268	149512268	+	RNA	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:149512268G>A	ENST00000378016.2	+	0	10588							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTAGACTGCGGGGGTGGCCA	0.662000													14	42					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71682799	71682799	+	Silent	SNP	T	T	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:71682799T>A	ENST00000393524.2	-	17	4498	c.3765A>T	c.(3763-3765)gcA>gcT	p.A1255A	PHLPP2_ENST00000568954.1_Silent_p.A1322A|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000356272.3_Silent_p.A1322A|PHLPP2_ENST00000567016.1_Silent_p.A1357A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1322						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCAGTCATAGTGCTGTGTCGA	0.557000													52	28					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055890	93055890	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:93055890G>A	ENST00000359558.2	-	16	1604	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	CALCR_ENST00000421592.1_Silent_p.T417T|CALCR_ENST00000360249.4_Silent_p.T417T|CALCR_ENST00000426151.1_Silent_p.T401T|CALCR_ENST00000394441.1_Silent_p.T401T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	417					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGCGCTTCACGGTGGTTTGGA	0.522000													36	38					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72012890	72012890	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:72012890G>A	ENST00000294053.3	-	12	1549	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	CLPB_ENST00000543042.1_Missense_Mutation_p.A258V|CLPB_ENST00000437826.2_Missense_Mutation_p.A414V|CLPB_ENST00000340729.5_Missense_Mutation_p.A400V|CLPB_ENST00000538039.1_Missense_Mutation_p.A429V|CLPB_ENST00000538021.1_Missense_Mutation_p.A67V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	459					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATCTGGATGGGCCTTGTCTAC	0.567000													9	265					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85634393	85634393	+	Splice_Site	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:85634393C>T	ENST00000322366.6	-	50	8318		c.e50-1		WDFY3_ENST00000295888.4_Splice_Site			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3							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)		AGCCAAAAACCTGAAAAATTT	0.423000													30	99					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151168844	151168844	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:151168844C>T	ENST00000296550.7	+	13	2622	c.1868C>T	c.(1867-1869)tCt>tTt	p.S623F	DCLK2_ENST00000302176.8_Missense_Mutation_p.S640F|DCLK2_ENST00000506325.1_Missense_Mutation_p.S622F	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	623	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATCACGGACTCTGCCAAGGTA	0.542000													9	14					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325145	158325145	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:158325145C>T	ENST00000444681.2	+	2	407	c.114C>T	c.(112-114)ttC>ttT	p.F38F	CD1E_ENST00000368167.3_Silent_p.F137F|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Silent_p.F135F|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Silent_p.F137F|CD1E_ENST00000368161.3_Silent_p.F137F|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.F137F|CD1E_ENST00000368166.3_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	137					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CACAAATCTTCTTAAATATGG	0.463000													43	257					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157815938	157815938	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:157815938C>T	ENST00000490689.2	-	5	1984	c.451G>A	c.(451-453)Gat>Aat	p.D151N	SHOX2_ENST00000389589.4_Missense_Mutation_p.D316N|SHOX2_ENST00000425436.3_Missense_Mutation_p.D292N|SHOX2_ENST00000441443.2_Missense_Mutation_p.D151N|SHOX2_ENST00000483851.2_Missense_Mutation_p.D280N			O60902	SHOX2_HUMAN	short stature homeobox 2	292					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAAGCCGAATCCGCGGCCAGC	0.672000													70	428					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74756363	74756363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74756363G>A	ENST00000377526.3	-	3	544	c.235C>T	c.(235-237)Cag>Tag	p.Q79*		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	117						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GAGTCCTCCTGCCGGGCCACG	0.587000													8	26					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605847	1605847	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:1605847G>A	ENST00000382171.2	-	1	666	c.633C>T	c.(631-633)ccC>ccT	p.P211P	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	211	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAACACACGGGCACACCGC	0.657000													40	95					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2343295	2343295	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2343295C>A	ENST00000334651.5	-	2	212	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	54							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGCCAATGCCATCTGTCCCT	0.428000													44	57					2.62258e-09	2.84483e-09	1	1	0
CCDC78	124093	broad.mit.edu	37	16	775574	775574	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:775574G>A	ENST00000293889.6	-	4	379	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	92										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTCCAGCCGAAGGATCTGT	0.677000													12	43					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73689056	73689056	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:73689056C>A	ENST00000310473.3	-	4	1054	c.212G>T	c.(211-213)cGt>cTt	p.R71L	UCP2_ENST00000536983.1_Missense_Mutation_p.R71L	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	71					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCCCTCAGTACGCACCATGGT	0.602000													54	41					2.12129e-23	2.45724e-23	1	1	0
TRPM8	79054	broad.mit.edu	37	2	234878872	234878872	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:234878872G>A	ENST00000324695.4	+	17	2197	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	719						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGTCGACAAGCACAAGAAGC	0.532000													6	95					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7684884	7684884	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:7684884C>T	ENST00000358368.4	-	17	2381	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	XAB2_ENST00000534844.1_Missense_Mutation_p.E779K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	782					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	p.E779K(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCTCCGCCTCAGCCGCCAGC	0.667000								Direct reversal of damage;Nucleotide excision repair (NER)					16	63					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44491019	44491019	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44491019A>G	ENST00000425708.2	-	6	1258	c.917T>C	c.(916-918)gTt>gCt	p.V306A	ZNF445_ENST00000396077.2_Missense_Mutation_p.V306A			P59923	ZN445_HUMAN	zinc finger protein 445	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGGAGCAGCAACTGGATTCCC	0.522000													29	41					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659956	30659956	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:30659956G>A	ENST00000215781.2	-	3	715	c.675C>T	c.(673-675)caC>caT	p.H225H	OSM_ENST00000403389.1_Silent_p.H204H	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	225					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TCAGGGCCTGGTGGGGGCTGT	0.657000													7	216					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442532	95442532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:95442532G>A	ENST00000324972.6	+	4	441	c.248G>A	c.(247-249)tGg>tAg	p.W83*	DYNC1I1_ENST00000457059.1_Intron|DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000447467.2_Intron|DYNC1I1_ENST00000437599.1_Nonsense_Mutation_p.W83*|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000413338.1_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	83	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.W83*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TTTTTAACATGGGATACCTGT	0.458000													46	35					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123977030	123977030	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:123977030G>T	ENST00000306315.5	-	7	4800	c.4365C>A	c.(4363-4365)ttC>ttA	p.F1455L	ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_Missense_Mutation_p.F1028L	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1455						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCGCTGGCCGAAGGGGGAGT	0.567000													46	51					1.15505e-17	1.31419e-17	1	1	0
NKIRAS2	28511	broad.mit.edu	37	17	40175690	40175690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:40175690G>A	ENST00000462043.2	+	3	231	c.113G>A	c.(112-114)tGg>tAg	p.W38*	NKIRAS2_ENST00000449471.4_Missense_Mutation_p.G63S|NKIRAS2_ENST00000307641.5_Missense_Mutation_p.G119S|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.G117S|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.G119S|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.G157S|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.G119S|NKIRAS2_ENST00000479407.1_Silent_p.L86L|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.G119S			Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	0	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CGTGGTCCTTGGCAACAAGTG	0.572000													18	81					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267353	48267353	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48267353G>A	ENST00000302329.3	+	1	746	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	233					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						TCCACCTGTGGGTCCCATTTC	0.522000													9	47					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166040	193166040	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:193166040A>C	ENST00000342695.4	-	18	2429	c.2107T>G	c.(2107-2109)Ttg>Gtg	p.L703V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L684V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	703					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGCTCTTCCAAGACAGGTTTT	0.398000													15	72					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137321028	137321028	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:137321028G>A	ENST00000540193.1	+	6	1617	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.G329R			P19793	RXRA_HUMAN	retinoid X receptor, alpha	329	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCACCGGGCTGCACGT	0.682000													28	51					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443733	158443733	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:158443733A>C	ENST00000243349.8	-	2	630	c.270T>G	c.(268-270)gaT>gaG	p.D90E	ACVR1C_ENST00000348328.5_Missense_Mutation_p.D90E|ACVR1C_ENST00000409680.3_Missense_Mutation_p.D40E|ACVR1C_ENST00000335450.7_Missense_Mutation_p.D90E	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTTGCAAAAATCTGTGAAGC	0.398000													6	179					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78180861	78180861	+	Silent	SNP	C	C	T	rs140536892		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:78180861C>T	ENST00000573882.1	+	22	3320	c.2784C>T	c.(2782-2784)aaC>aaT	p.N928N	CARD14_ENST00000344227.2_Silent_p.N928N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	928	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCTGTCAACGAGAAGATGG	0.612000													42	27					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465953	223465953	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:223465953G>A	ENST00000343846.3	-	2	822	c.189C>T	c.(187-189)ccC>ccT	p.P63P	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.P63P|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.P63P|SUSD4_ENST00000366878.4_Silent_p.P63P			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	63	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCATTCTCGGGAATGCCGG	0.517000													47	32					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8285552	8285552	+	Missense_Mutation	SNP	C	C	T	rs11542516		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:8285552C>T	ENST00000582471.1	-	2	127	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	RPL26_ENST00000578812.1_Missense_Mutation_p.R26Q|RPL26_ENST00000584164.1_Missense_Mutation_p.R26Q|RPL26_ENST00000583011.1_Missense_Mutation_p.R26Q|RPL26_ENST00000582556.1_Missense_Mutation_p.R26Q|RPL26_ENST00000293842.5_Missense_Mutation_p.R26Q|RPL26_ENST00000585176.1_Intron																							AATCTTCCTTCGAATGTGGGA	0.418000													11	36					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982952	106982952	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:106982952G>C	ENST00000369701.3	+	20	3040	c.2813G>C	c.(2812-2814)tGg>tCg	p.W938S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	938						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)		GCAGTCGTGTGGCCCAGTCAA	0.443000													89	16					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580885	2580885	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:2580885C>T	ENST00000382350.1	-	1	535	c.190G>A	c.(190-192)Gtg>Atg	p.V64M	CEMP1_ENST00000567119.1_Missense_Mutation_p.V64M|AMDHD2_ENST00000413459.3_3'UTR|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron|AMDHD2_ENST00000565570.1_3'UTR			Q6PRD7	CEMP1_HUMAN	cementum protein 1	64						cytoplasm				lung(1)|skin(1)	2						GGGATACCCACCTCTGCCTTG	0.662000													17	45					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186112120	186112120	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:186112120T>C	ENST00000458385.2	-	2	350	c.231A>G	c.(229-231)ccA>ccG	p.P77P	KIAA1430_ENST00000514798.1_Silent_p.P77P|KIAA1430_ENST00000296775.6_Silent_p.P77P	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	77										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGGGGTGTTCTGGGGGAAATT	0.348000													7	13					0	0	1	0	0
C19orf54	284325	broad.mit.edu	37	19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:41248439G>A	ENST00000378313.2	-	6	1074	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598485.2_Intron	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	319										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647000													12	13					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50044617	50044617	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:50044617C>T	ENST00000335154.5	-	17	2075	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	FMNL3_ENST00000550488.1_Silent_p.A614A|FMNL3_ENST00000293590.5_Silent_p.A614A|FMNL3_ENST00000352151.5_Silent_p.A563A	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	614	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCTTTTGTCT	0.498000													31	79					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011886	27011886	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27011886G>T	ENST00000314616.6	+	19	2677	c.2394G>T	c.(2392-2394)ctG>ctT	p.L798L	SUPT6H_ENST00000347486.4_Silent_p.L798L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	798					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTGCGCCCTGGTCAATGGTG	0.453000													21	46					7.41877e-09	7.97986e-09	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70841650	70841650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:70841650C>T	ENST00000393567.2	-	86	15349	c.15199G>A	c.(15199-15201)Gag>Aag	p.E5067K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5067										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGCACAGACTCTCCAGCGCGA	0.512000													28	91					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346728	48346728	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:48346728C>T	ENST00000319856.4	+	1	257	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T79K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCAGCCCCACGCTGGCTTCC	0.448000													31	60					0	0	1	0	0
MRPL11	65003	broad.mit.edu	37	11	66206132	66206132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:66206132C>G	ENST00000310999.7	-	1	187	c.94G>C	c.(94-96)Ggg>Cgg	p.G32R	MRPL11_ENST00000430466.2_Intron|MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000329819.4_Missense_Mutation_p.G32R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	32					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						AGTGGGGGCCCGGGCATGGCC	0.721000													38	13					0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	rs141198887	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:107531159G>A	ENST00000374762.3	+	3	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343000													8	20					0	0	1	0	0
TMEM260	54916	broad.mit.edu	37	14	57052563	57052563	+	Missense_Mutation	SNP	C	C	T	rs144727961	by1000genomes	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:57052563C>T	ENST00000261556.6	+	3	399	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TMEM260_ENST00000538838.1_Missense_Mutation_p.R93C|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260									p.R93C(1)									AATTGCCTACCGCGTCAATCT	0.403000													21	50					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35874558	35874558	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:35874558G>A	ENST00000303115.3	+	6	843	c.714G>A	c.(712-714)atG>atA	p.M238I	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	238					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.E237_L242>ASWC(2)|p.M238_L243>PCK(2)|p.M238I(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAGGGGAGATGGATCCTATCT	0.448000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						30	98					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29122517	29122517	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr18:29122517G>T	ENST00000261590.8	+	14	2245	c.2036G>T	c.(2035-2037)gGc>gTc	p.G679V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	679					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GATCAAGGGGGCAGTCTAGTA	0.502000													3	25					0.115264	0.117094	1	1	0
MSMO1	6307	broad.mit.edu	37	4	166263045	166263045	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166263045C>A	ENST00000261507.6	+	6	1002	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	MSMO1_ENST00000393766.2_Missense_Mutation_p.Q146K	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	277					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	AACAGACTCTCAGTATAATGC	0.363000													15	17					6.31663e-08	6.73774e-08	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17295781	17295781	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:17295781C>T	ENST00000595618.1	+	17	2633	c.2481C>T	c.(2479-2481)atC>atT	p.I827I	MYO9B_ENST00000397274.2_Silent_p.I827I|MYO9B_ENST00000594824.1_Silent_p.I827I	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	827	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACCAAGCATCAGCGCCCAGT	0.582000													8	229					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60740312	60740312	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:60740312C>G	ENST00000261520.4	-	11	2386	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	NARG2_ENST00000439632.1_Missense_Mutation_p.D581H	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	718						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCCGATGTATCTTCAACATAG	0.363000													20	36					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394915	64394915	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:64394915C>A	ENST00000262043.3	+	4	1632	c.1292C>A	c.(1291-1293)cCg>cAg	p.P431Q	PHF3_ENST00000393387.1_Missense_Mutation_p.P431Q|PHF3_ENST00000509330.1_Missense_Mutation_p.P431Q			Q92576	PHF3_HUMAN	PHD finger protein 3	431					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACTTTTGGACCGGAAAGTAAT	0.373000													5	174					0.014758	0.0151729	1	1	0
EVPL	2125	broad.mit.edu	37	17	74011020	74011020	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:74011020G>A	ENST00000301607.3	-	17	2452	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	EVPL_ENST00000586740.1_Silent_p.A755A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	733	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCCCTACGGCGTGGTAGC	0.652000													4	67					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74598210	74598210	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74598210C>T	ENST00000361874.3	-	9	1056	c.739G>A	c.(739-741)Gag>Aag	p.E247K	DCTN1_ENST00000409567.3_Missense_Mutation_p.E227K|DCTN1_ENST00000409240.1_Missense_Mutation_p.E210K|DCTN1_ENST00000407639.2_Missense_Mutation_p.E113K|DCTN1_ENST00000409868.1_Missense_Mutation_p.E230K|DCTN1_ENST00000394003.3_Missense_Mutation_p.E240K|DCTN1_ENST00000409438.1_Missense_Mutation_p.E113K	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	247					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCTCCAGCTCTTTTAGCTTT	0.562000													14	397					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451478	55451478	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:55451478C>T	ENST00000588756.1	-	6	1195	c.709G>A	c.(709-711)Gac>Aac	p.D237N	NLRP7_ENST00000590030.1_Missense_Mutation_p.D237N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D237N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D237N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D237N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D265N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D237N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	237	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTTGGAATGTCATCCTGCAAT	0.557000													35	127					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2184836	2184836	+	Missense_Mutation	SNP	C	C	T	rs149133886		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chrX:2184836C>T	ENST00000334651.5	-	5	593	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	181							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCAGAGGAGACGGTGACCACC	0.547000													113	103					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38845424	38845424	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845424G>C	ENST00000409235.3	+	9	1187	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	CATSPERG_ENST00000215069.4_Missense_Mutation_p.E371Q|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E358Q	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	358					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAATGGCTCTGAGTACATAAT	0.557000													11	337					0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52449884	52449884	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:52449884G>A	ENST00000545748.1	+	4	2104	c.1109G>A	c.(1108-1110)cGa>cAa	p.R370Q	NR4A1_ENST00000243050.1_Missense_Mutation_p.R316Q|NR4A1_ENST00000394824.2_Missense_Mutation_p.R316Q|NR4A1_ENST00000360284.3_Missense_Mutation_p.R329Q|NR4A1_ENST00000394825.1_Missense_Mutation_p.R316Q|NR4A1_ENST00000550082.1_Missense_Mutation_p.R329Q			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	316				R -> L (in Ref. 2; AAA36763).	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AAGAGGCGGCGAAACCGCTGC	0.632000													22	96					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893269	27893269	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27893269C>G	ENST00000307201.4	-	1	886	c.716G>C	c.(715-717)gGc>gCc	p.G239A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	239						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CAGCGCCGAGCCCGAGCCTTC	0.697000													11	46					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													8	36					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169505755	169505755	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:169505755C>T	ENST00000367796.3	-	14	5176	c.4975G>A	c.(4975-4977)Gat>Aat	p.D1659N	F5_ENST00000367797.3_Missense_Mutation_p.D1654N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1654	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGGATAACATCATCCACTTCA	0.458000													5	26					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847804	22847804	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:22847804G>T	ENST00000456783.2	+	4	1577	c.1333G>T	c.(1333-1335)Gga>Tga	p.G445*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AATTCATACTGGAGAGAAGCC	0.373000													26	47					4.22769e-11	4.64502e-11	1	1	0
CDH23	64072	broad.mit.edu	37	10	73571082	73571082	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:73571082A>G	ENST00000224721.6	+	62	9108	c.9103A>G	c.(9103-9105)Atg>Gtg	p.M3035V	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.M790V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3030					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						GGTGATCCAGATGATCGATGA	0.592000													39	31					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151202511	151202511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:151202511C>G	ENST00000274576.4	-	9	1365	c.1073G>C	c.(1072-1074)gGa>gCa	p.G358A	GLRA1_ENST00000545569.1_Missense_Mutation_p.G275A|GLRA1_ENST00000455880.2_Missense_Mutation_p.G366A	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	366					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGGCCTTCTCCAGCTTCATC	0.562000													11	16					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58126261	58126261	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:58126261G>A	ENST00000357377.3	-	1	281	c.282C>T	c.(280-282)gcC>gcT	p.A94A		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGCAGCACAGGCACTGTAGG	0.483000													33	31					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23793806	23793806	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:23793806G>T	ENST00000546136.1	-	7	920	c.918C>A	c.(916-918)atC>atA	p.I306I	SOX5_ENST00000541536.1_Silent_p.I306I|SOX5_ENST00000545921.1_Silent_p.I309I|SOX5_ENST00000451604.2_Silent_p.I319I|SOX5_ENST00000537393.1_Silent_p.I284I|SOX5_ENST00000381381.2_Silent_p.I306I|SOX5_ENST00000309359.1_Silent_p.I306I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	319					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGGTAGTTGGGATCAGCTGAA	0.473000													49	74					1.00221e-16	1.13525e-16	1	1	0
FAT4	79633	broad.mit.edu	37	4	126370861	126370861	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:126370861C>G	ENST00000394329.3	+	9	8703	c.8690C>G	c.(8689-8691)aCa>aGa	p.T2897R	FAT4_ENST00000335110.5_Missense_Mutation_p.T1195R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2897	Cadherin 28.				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						GTATTTGCAACAGATCCTGAT	0.363000													5	89					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38845387	38845387	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:38845387G>C	ENST00000409235.3	+	9	1150	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	CATSPERG_ENST00000215069.4_Missense_Mutation_p.K358N|CATSPERG_ENST00000410018.1_Missense_Mutation_p.K345N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	345					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGTGCATCAAGAAGCTGTGCC	0.562000													9	256					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129649559	129649559	+	Splice_Site	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:129649559T>C	ENST00000421865.2	+	29	4360		c.e29+2			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATGCCAGGTAGTCCTCTGA	0.532000													4	67					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228334	31228334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:31228334C>T	ENST00000302964.3	-	1	346	c.16G>A	c.(16-18)Gag>Aag	p.E6K	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	6	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGGATGGCCTCGCGCTTCGTT	0.647000													5	49					0	0	1	0	0
MIR1197	100302250	broad.mit.edu	37	14	101491923	101491923	+	RNA	SNP	G	G	A	rs141611518	by1000genomes	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:101491923G>A	ENST00000408818.1	+	0	23					NR_031713.1																						TTGAAGATGCGGTTGACCATG	0.483000													13	18					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779242	18779242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:18779242G>A	ENST00000300976.4	+	3	1125	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	345										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGAGCTCACGGAGATGGAGG	0.682000													19	17					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78140190	78140190	+	Missense_Mutation	SNP	C	C	T	rs146924402	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr14:78140190C>T	ENST00000216489.3	-	6	1150	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	379					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CGTTTTACTTCGCTATTCTGG	0.463000													27	44					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636003	44636003	+	Nonsense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:44636003T>G	ENST00000322734.2	+	3	651	c.318T>G	c.(316-318)taT>taG	p.Y106*	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAAGCCCTATACATGCAGTG	0.443000													4	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425858	179425858	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179425858T>C	ENST00000589042.1	-	326	85225	c.85001A>G	c.(85000-85002)gAc>gGc	p.D28334G	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19394G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19269G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D26693G|TTN_ENST00000342992.6_Missense_Mutation_p.D25766G|TTN_ENST00000342175.6_Missense_Mutation_p.D19461G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26693	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTAACTGAGTCAGCAGCATT	0.383000													31	127					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314478	54314478	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:54314478C>A	ENST00000324134.6	-	3	603	c.435G>T	c.(433-435)gcG>gcT	p.A145A	NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A|NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567000													26	138					3.69857e-22	4.26501e-22	1	1	0
ZNF548	147694	broad.mit.edu	37	19	57910071	57910071	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:57910071C>T	ENST00000366197.5	+	3	666	c.416C>T	c.(415-417)tCa>tTa	p.S139L	AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S151L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGATACCTTCATTTGGGAAG	0.478000													22	99					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835870	4835870	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:4835870G>T	ENST00000252318.2	+	2	721	c.384G>T	c.(382-384)tgG>tgT	p.W128C	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	128						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCAGGCAATGGGGCGAGGATC	0.517000													31	33					8.58068e-18	9.80649e-18	1	1	0
POU6F2	11281	broad.mit.edu	37	7	39379526	39379526	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:39379526C>T	ENST00000518318.2	+	5	839	c.797C>T	c.(796-798)aCc>aTc	p.T266I	POU6F2_ENST00000559001.1_Missense_Mutation_p.T258I|POU6F2_ENST00000403058.1_Missense_Mutation_p.T266I|POU6F2_ENST00000517348.1_3'UTR			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	266	Gln-rich.|Pro-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ccatctccaacccagcagagc	0.627000													23	45					0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27285924	27285924	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:27285924G>A	ENST00000496902.4	+	3	1590	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000535619.1_Silent_p.S186S			P49640	EVX1_HUMAN	even-skipped homeobox 1	368	Ala-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CCGCCGCCTCGGACTTCACCT	0.751000													8	5					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21309203	21309203	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:21309203C>T	ENST00000377191.3	+	4	417	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	XRN2_ENST00000430571.2_Missense_Mutation_p.R32C|XRN2_ENST00000539513.1_Missense_Mutation_p.R54C	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	108					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCAGGCACCACGTGCTAAAAT	0.388000													8	27					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140885042	140885042	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:140885042G>A	ENST00000252085.3	+	3	2708	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	PCDHGB6_ENST00000520790.1_Missense_Mutation_p.A854T|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.A855T|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.A674T|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.A853T|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.A862T|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.A853T|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.A847T|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.A860T|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.A856T|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.A856T|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.A855T|PCDHGA8_ENST00000398604.2_Missense_Mutation_p.A856T|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.A856T|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.A851T|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.A868T|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.A856T|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.A856T|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.A858T|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.A855T|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.A855T|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.A859T	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCGTCCGCCAGTGGTAA	0.567000													4	95					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44222828	44222828	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:44222828G>A	ENST00000244314.5	+	2	317	c.118G>A	c.(118-120)Gcc>Acc	p.A40T		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	40						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCCCAGGCCGCCTCTCACCT	0.667000													6	116					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3180309	3180309	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:3180309C>T	ENST00000380989.2	-	27	3069	c.3031G>A	c.(3031-3033)Ggc>Agc	p.G1011S	PITRM1_ENST00000380994.1_Missense_Mutation_p.G568S|PITRM1_ENST00000224949.4_Missense_Mutation_p.G1010S|PITRM1_ENST00000451104.2_Missense_Mutation_p.G912S|PITRM1_ENST00000464395.1_5'UTR	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	912					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCCCAGTGCCGAGGTATCTG	0.607000													5	6					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368392.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000343256.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL								16	62					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99463239	99463239	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:99463239T>C	ENST00000397899.2	-	2	356	c.25A>G	c.(25-27)Att>Gtt	p.I9V	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CGAAGCTTAATGTCCATCACC	0.502000													57	65					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400084	80400084	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:80400084G>A	ENST00000577944.1	+	13	1387	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	HEXDC_ENST00000337014.6_Silent_p.R458R|HEXDC_ENST00000327949.9_Missense_Mutation_p.E429K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					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)			CCTCGTGCAGGAGCTGGAGGC	0.642000													13	57					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457754	110457754	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:110457754G>A	ENST00000378402.5	+	38	5760	c.5656G>A	c.(5656-5658)Gct>Act	p.A1886T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1886	IPT/TIG 11.				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)			CCGCACTCCCGCTGGGACCAC	0.433000										HNSCC(38;0.096)			3	16					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167108339	167108339	+	Silent	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:167108339T>C	ENST00000303354.6	-	18	3751	c.3411A>G	c.(3409-3411)ggA>ggG	p.G1137G	SCN9A_ENST00000375387.4_Silent_p.G1137G|SCN9A_ENST00000409435.1_Silent_p.G1136G|SCN9A_ENST00000409672.1_Silent_p.G1125G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1136						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTCTCCTTCTCCAGGCAAAG	0.458000													11	46					0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636741	207636741	+	Splice_Site	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:207636741G>T	ENST00000236980.6	+	5	1462	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	FASTKD2_ENST00000402774.3_Splice_Site_p.D372Y|FASTKD2_ENST00000403094.3_Splice_Site_p.D372Y	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	372					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GGTGGTCCTAGGTAAGAGGAA	0.333000													8	141					0.000157383	0.000164449	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321799	52321799	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:52321799G>A	ENST00000356297.4	-	17	2485	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	PXDNL_ENST00000543296.1_Silent_p.P795P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	795					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				AGCTGTGGTCGGGGGTGACGG	0.726000													3	3					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485744	57485744	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:57485744C>G	ENST00000300131.3	+	2	1298	c.920C>G	c.(919-921)tCt>tGt	p.S307C	NAB2_ENST00000357680.4_Missense_Mutation_p.S307C|NAB2_ENST00000342556.6_Missense_Mutation_p.S307C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	307	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CGTTTCGACTCTAAGCGGCGG	0.567000													4	97					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57289841	57289841	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:57289841C>G	ENST00000543872.2	+	3	2163	c.1899C>G	c.(1897-1899)ttC>ttG	p.F633L	SMG8_ENST00000300917.5_Missense_Mutation_p.F633L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	633					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATTATGACTTCTATCAGGTAG	0.368000													4	108					0	0	1	0	0
NPB	256933	broad.mit.edu	37	17	79860514	79860514	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:79860514G>A	ENST00000573081.1	+	1	1894	c.361G>A	c.(361-363)Gtc>Atc	p.V121I	NPB_ENST00000333383.7_Missense_Mutation_p.V90I|PCYT2_ENST00000538936.2_3'UTR			Q8NG41	NPB_HUMAN	neuropeptide B	90					neuropeptide signaling pathway	extracellular region						all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGTCCAGGACGTCGCCCCAAA	0.726000													6	33					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48062787	48062787	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:48062787C>T	ENST00000316364.5	+	19	2466	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	SEMA6D_ENST00000389433.2_Missense_Mutation_p.A657V|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A633V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A614V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A614V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A676V|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A601V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A614V|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A620V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	676					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTTTTGGGGGCATTCATTGCA	0.473000													4	77					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832410	113832410	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:113832410C>A	ENST00000393197.2	+	3	650	c.229C>A	c.(229-231)Cct>Act	p.P77T	IL1F10_ENST00000341010.2_Missense_Mutation_p.P77T|IL1F10_ENST00000337569.3_Missense_Mutation_p.P77T	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	77						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						AGAAGAGGGGCCTTCCCTACA	0.602000													13	41					2.27111e-07	2.41247e-07	1	1	0
FAM175B	23172	broad.mit.edu	37	10	126523241	126523241	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr10:126523241G>A	ENST00000298492.5	+	9	994	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	317						BRISC complex	polyubiquitin binding			NS(1)	1						AAACAATCAAGAAAGTACTTT	0.517000													17	37					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136137502	136137502	+	RNA	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136137502C>T	ENST00000453660.2	-	0	109							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGTGTCTTACCCAAACAAGAC	0.488000													4	11					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651705	152651705	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:152651705G>A	ENST00000367255.5	-	78	14716	c.14115C>T	c.(14113-14115)gcC>gcT	p.A4705A	SYNE1_ENST00000265368.4_Silent_p.A4705A|SYNE1_ENST00000341594.5_Silent_p.A4452A|SYNE1_ENST00000423061.1_Silent_p.A4634A|SYNE1_ENST00000448038.1_Silent_p.A4634A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4705					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			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)		CCTCCTCAACGGCCAGGTCGG	0.522000										HNSCC(10;0.0054)			22	7					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184784	69184784	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:69184784C>G	ENST00000563094.1	+	8	1013	c.979C>G	c.(979-981)Ctc>Gtc	p.L327V	CIRH1A_ENST00000314423.7_Missense_Mutation_p.L327V|CIRH1A_ENST00000352319.4_Missense_Mutation_p.L327V			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	327						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGATGCCGCTCTCCGAAAAAT	0.522000													19	51					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25302060	25302060	+	RNA	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:25302060G>A	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							TGAACAAAATGAGTGAGAACT	0.512000													38	93					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52778769	52778769	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:52778769G>T	ENST00000396947.3	+	2	311	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	FST_ENST00000256759.3_Nonsense_Mutation_p.E49*	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	49	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GTACAAGACCGAACTGAGCAA	0.582000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	89					0.014758	0.0151729	1	1	0
GRIK3	2899	broad.mit.edu	37	1	37319237	37319237	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:37319237C>A	ENST00000373091.3	-	8	1207	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.L397L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	397					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	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|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)	CATCCTCTTTCAGGCTGATGA	0.542000													28	41					1.42536e-11	1.57281e-11	1	1	0
C6orf106	64771	broad.mit.edu	37	6	34574587	34574587	+	Silent	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:34574587C>G	ENST00000374023.3	-	4	849	c.606G>C	c.(604-606)ccG>ccC	p.P202P	C6orf106_ENST00000374021.1_Silent_p.P128P|C6orf106_ENST00000374026.3_Silent_p.P136P	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	202										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						CCTTACGATGCGGCTGTGTGT	0.478000													4	77					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69020396	69020396	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:69020396C>T	ENST00000288368.4	+	24	3045	c.2768C>T	c.(2767-2769)tCt>tTt	p.S923F		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	923					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGGCCAAATCTAAAATCTCC	0.403000													5	32					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136409600	136409600	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:136409600C>T	ENST00000393061.3	+	8	1450	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	ADAMTSL2_ENST00000393060.1_Silent_p.L231L|ADAMTSL2_ENST00000354484.4_Silent_p.L231L			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	231					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGGTTACTCTCTGGTGACCCA	0.587000													43	54					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974164	49974164	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:49974164C>T	ENST00000555099.1	+	1	222	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L64F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CCTGGCCTATCTCTCCTTTAT	0.433000													25	242					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48919345	48919345	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:48919345C>T	ENST00000263269.3	+	7	1756	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	556						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGTCCCCTTCGTGGAGACCG	0.667000													17	93					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152203350	152203350	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:152203350G>A	ENST00000455694.2	+	3	268	c.266G>A	c.(265-267)gGt>gAt	p.G89D	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ATTACAGTAGGTGACTCAAGG	0.478000													13	168					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36334426	36334426	+	Missense_Mutation	SNP	G	G	A	rs145392208	byFrequency	TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:36334426G>A	ENST00000373738.1	-	7	1702	c.857C>T	c.(856-858)cCg>cTg	p.P286L	ETV7_ENST00000538992.1_Missense_Mutation_p.P190L|ETV7_ENST00000373737.4_Missense_Mutation_p.P264L|ETV7_ENST00000339796.5_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.P341L	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	341					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TGCCCCTCACGGAGAGATTTC	0.622000													36	97					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061072	111061072	+	Missense_Mutation	SNP	C	C	T	rs141128096		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:111061072C>T	ENST00000369771.2	-	1	725	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	113						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TTCCCGGTCTCCCAGGAGAGT	0.458000													21	44					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139654	3139654	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr16:3139654G>A	ENST00000252463.2	-	5	1703	c.1616C>T	c.(1615-1617)gCc>gTc	p.A539V	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A200V|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A457V	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	539					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGTGGCGGGCAAGGCTGGC	0.706000													5	19					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31633168	31633168	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:31633168A>T	ENST00000389082.5	-	3	523	c.259T>A	c.(259-261)Tct>Act	p.S87T	DENND5B_ENST00000536562.1_Missense_Mutation_p.S122T|DENND5B_ENST00000306833.6_Missense_Mutation_p.S122T|DENND5B_ENST00000354285.4_Missense_Mutation_p.S109T|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	87	UDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCCTGAAAGATAGCCCTTTA	0.353000													3	17					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11312572	11312572	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:11312572C>T	ENST00000294618.7	-	44	5692	c.5681G>A	c.(5680-5682)cGg>cAg	p.R1894Q	DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.R1233Q	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1894	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACCTCCTCCCGGTGGCACAC	0.677000													4	12					0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111853166	111853166	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:111853166A>G	ENST00000440460.2	+	8	1167	c.870A>G	c.(868-870)ttA>ttG	p.L290L	DIXDC1_ENST00000315253.5_Silent_p.L79L|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	291	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGAATATTTAGAAAAAGAAA	0.433000											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	18					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166254772	166254772	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:166254772C>G	ENST00000261507.6	+	2	423	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E	MSMO1_ENST00000504317.1_Missense_Mutation_p.Q84E|MSMO1_ENST00000393766.2_Intron	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	84					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATACAAAATTCAAAAGGTGAG	0.294000													8	11					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152324511	152324511	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:152324511C>G	ENST00000388718.5	-	3	5823	c.5751G>C	c.(5749-5751)aaG>aaC	p.K1917N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGGTGTCTCTTGTGAACTG	0.502000													70	546					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233391291	233391291	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:233391291G>C	ENST00000258385.3	+	2	137	c.105G>C	c.(103-105)gaG>gaC	p.E35D	CHRND_ENST00000536614.1_Missense_Mutation_p.E35D|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.E35D	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	35					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGTTTCAAGAGAAGGGCTACA	0.632000													6	43					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891085	6891085	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:6891085C>A	ENST00000307322.4	+	1	162	c.100C>A	c.(100-102)Ctg>Atg	p.L34M		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTCATCATTCTGGTTACCCT	0.463000													56	127					9.59835e-30	1.12715e-29	1	1	0
C22orf24	25775	broad.mit.edu	37	22	32330184	32330184	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr22:32330184G>A	ENST00000248984.3	-	3	569	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	C22orf24_ENST00000486651.1_5'UTR|C22orf24_ENST00000543051.1_Silent_p.L202L	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	135						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						GGCTCCCTCAGGGCCTGGTGG	0.532000													17	4					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61943386	61943386	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:61943386C>T	ENST00000422202.1	+	13	1871	c.1803C>T	c.(1801-1803)agC>agT	p.S601S	COL20A1_ENST00000326996.6_Silent_p.S594S|COL20A1_ENST00000435874.1_Silent_p.S601S|COL20A1_ENST00000358894.6_Silent_p.S594S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	594	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATGTGTCCAGCGAGGGTGGAC	0.677000													11	28					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43138622	43138622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:43138622G>A	ENST00000342374.4	-	5	680	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	SERINC3_ENST00000255175.1_Nonsense_Mutation_p.Q175*|SERINC3_ENST00000541235.1_Nonsense_Mutation_p.Q120*	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	175						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGCACCAGCTGAATGAGGATG	0.433000													15	664					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634499	179634499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:179634499G>A	ENST00000589042.1	-	37	9033	c.8809C>T	c.(8809-8811)Cag>Tag	p.Q2937*	TTN_ENST00000359218.5_Nonsense_Mutation_p.Q2891*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q2891*|TTN_ENST00000360870.5_Nonsense_Mutation_p.Q2937*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q2937*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q2937*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q2891*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2675	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATCAGCTGATGGAGTTTT	0.473000													50	182					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067739	190067739	+	Silent	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:190067739A>C	ENST00000367462.3	-	8	1941	c.1710T>G	c.(1708-1710)gcT>gcG	p.A570A	BRINP3_ENST00000534846.1_Silent_p.A468A	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	570																	TGACATAAACAGCCAACACTG	0.453000													5	125					0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6374449	6374449	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:6374449G>A	ENST00000255764.3	-	3	407	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	99					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TCATGGTGTCGATCTTGCCTT	0.423000													4	112					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241099994	241099994	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:241099994T>C	ENST00000366565.1	-	5	620	c.239A>G	c.(238-240)cAt>cGt	p.H80R	RGS7_ENST00000366564.1_Missense_Mutation_p.H80R|RGS7_ENST00000366563.1_Missense_Mutation_p.H80R|RGS7_ENST00000331110.7_Missense_Mutation_p.H54R|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.H80R|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.H80R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGTTCCCAAATGGAGCGCCTC	0.383000													24	49					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089871	115089871	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:115089871C>T	ENST00000361283.1	+	3	863	c.554C>T	c.(553-555)cCt>cTt	p.P185L		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	185	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GTTTCTTCTCCTGAACCTCCA	0.507000													42	156					0	0	1	0	0
AVL9	23080	broad.mit.edu	37	7	32598622	32598622	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr7:32598622G>C	ENST00000318709.4	+	10	982	c.761G>C	c.(760-762)aGt>aCt	p.S254T	AVL9_ENST00000409301.1_Missense_Mutation_p.S254T|AVL9_ENST00000404479.1_Missense_Mutation_p.S254T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	254						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCAGGAAAGTAACCCATGT	0.423000													18	46					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113252013	113252013	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr9:113252013G>C	ENST00000401783.2	-	9	2183	c.1847C>G	c.(1846-1848)cCa>cGa	p.P616R	SVEP1_ENST00000374461.1_Missense_Mutation_p.P593R|SVEP1_ENST00000302728.8_Missense_Mutation_p.P616R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P593R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	616	HYR 1.				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						ATCTCCAATTGGGAAAAGGTA	0.413000													21	44					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2026821	2026821	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:2026821A>C	ENST00000262113.4	+	12	1410	c.1269A>C	c.(1267-1269)gaA>gaC	p.E423D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	423	Fibronectin type-III 1.				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)		GAAGATGTGAAGTAGGAACGA	0.378000													31	17					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95656756	95656756	+	Silent	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:95656756G>T	ENST00000436874.1	+	4	438	c.333G>T	c.(331-333)ctG>ctT	p.L111L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.L63L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	111						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGTGGAGCTGATTGAGCTAC	0.453000													38	108					9.45814e-24	1.10058e-23	1	1	0
FAT3	120114	broad.mit.edu	37	11	92532148	92532148	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:92532148C>T	ENST00000298047.6	+	9	5986	c.5969C>T	c.(5968-5970)tCa>tTa	p.S1990L	FAT3_ENST00000409404.2_Missense_Mutation_p.S1990L|FAT3_ENST00000525166.1_Missense_Mutation_p.S1840L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1990	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCCACCTCAATCTCAGAG	0.428000										TCGA Ovarian(4;0.039)			92	135					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38723820	38723820	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:38723820A>G	ENST00000359357.3	+	8	1083	c.829A>G	c.(829-831)Aat>Gat	p.N277D	DNAH8_ENST00000441566.1_Missense_Mutation_p.N277D|DNAH8_ENST00000449981.2_Missense_Mutation_p.N494D					dynein, axonemal, heavy chain 8											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						AAGGTATTATAATACCTCAGA	0.348000													18	44					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25637964	25637964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:25637964C>G	ENST00000330688.4	+	8	1625	c.1204C>G	c.(1204-1206)Ctc>Gtc	p.L402V	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.L290V|RARB_ENST00000404969.1_Missense_Mutation_p.L409V|RARB_ENST00000458646.1_Missense_Mutation_p.L290V	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	409	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATGCCACCTCTCATTCAAGA	0.433000													41	137					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117866640	117866640	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr8:117866640C>G	ENST00000297338.2	-	9	1292	c.1005G>C	c.(1003-1005)aaG>aaC	p.K335N		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	335	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTCTAATTGTCTTGCTATCCA	0.378000													14	57					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368979	64368979	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr11:64368979C>T	ENST00000377574.1	+	10	2365	c.1618C>T	c.(1618-1620)Cat>Tat	p.H540Y	SLC22A12_ENST00000377572.1_Missense_Mutation_p.H432Y|SLC22A12_ENST00000377567.2_Missense_Mutation_p.H432Y|SLC22A12_ENST00000336464.7_Missense_Mutation_p.H506Y|SLC22A12_ENST00000473690.1_Missense_Mutation_p.H319Y	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	540					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GAAGGCAACACATGGCACGCT	0.567000													6	17					0	0	1	0	0
LRRC40	55631	broad.mit.edu	37	1	70616831	70616831	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:70616831C>T	ENST00000370952.3	-	13	1576	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	499										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AAAGATTGATCGTTTGCAGTC	0.294000													6	22					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1983319	1983319	+	Silent	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:1983319C>T	ENST00000399161.2	-	7	810	c.63G>A	c.(61-63)gtG>gtA	p.V21V	MYT1L_ENST00000428368.2_Silent_p.V21V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	21					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTGGTTCCACGGGAACTG	0.448000													18	43					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133909338	133909338	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:133909338A>G	ENST00000395003.1	+	10	1617	c.1438A>G	c.(1438-1440)Aga>Gga	p.R480G	PHF15_ENST00000361895.2_Missense_Mutation_p.R480G|PHF15_ENST00000282605.4_Missense_Mutation_p.R480G|PHF15_ENST00000402835.1_Intron	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		480					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.R480G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTCAGGTTAGAAATCTGTG	0.512000													36	12					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562491	28562491	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr3:28562491G>A	ENST00000383768.2	+	9	981	c.793G>A	c.(793-795)Gag>Aag	p.E265K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E265K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	265							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGTTGTCTGTGAGACGGAAGT	0.373000													12	40					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230707	46230707	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:46230707C>T	ENST00000334344.6	+	8	1128	c.956C>T	c.(955-957)tCt>tTt	p.S319F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.S170F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	319					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTATTACTTTCTGCACATAGT	0.378000			"""N, S, F"""		hepatocellular carcinoma								21	58					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:37866359G>T	ENST00000406381.2	+	8	1084	c.574G>T	c.(574-576)Ggt>Tgt	p.G192C	ERBB2_ENST00000269571.5_Missense_Mutation_p.G222C|ERBB2_ENST00000541774.1_Missense_Mutation_p.G207C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Missense_Mutation_p.G192C|ERBB2_ENST00000584601.1_Missense_Mutation_p.G192C|ERBB2_ENST00000540147.1_Missense_Mutation_p.G192C|ERBB2_ENST00000578199.1_Missense_Mutation_p.G192C|ERBB2_ENST00000584450.1_Missense_Mutation_p.G222C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	222					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCTGTGCCGGTGGCTGTGC	0.647000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			101	47					2.96211e-45	3.49447e-45	1	1	0
PROCA1	147011	broad.mit.edu	37	17	27031334	27031334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:27031334C>T	ENST00000301039.2	-	3	540	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_Missense_Mutation_p.R118Q|PROCA1_ENST00000579650.1_5'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	144					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGCCATACCGGAATCGCTC	0.642000													50	243					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28456242	28456242	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr15:28456242G>A	ENST00000261609.7	-	44	7083	c.6975C>T	c.(6973-6975)atC>atT	p.I2325I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCTTTCAGGATGTATAGCT	0.577000													30	48					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208856	13208856	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr12:13208856A>G	ENST00000197268.8	+	2	529	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	137						integral to membrane		p.S137G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CAGCACCTGGAGCCGCCACTT	0.517000													8	58					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101720314	101720314	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:101720314G>A	ENST00000251127.6	-	39	4483	c.4402C>T	c.(4402-4404)Cgc>Tgc	p.R1468C		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1468						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAAAGTGGCGAAGATCATTG	0.363000													4	56					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145103968	145103968	+	RNA	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145103968G>A	ENST00000453618.1	+	0	463							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AAAGTTGAATGAACAGTCCCC	0.383000													16	33					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37371058	37371058	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr5:37371058C>T	ENST00000231498.3	-	1	225	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	NUP155_ENST00000513532.1_Missense_Mutation_p.A8T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	8					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCATCGCCGCGCCCAACAAA	0.527000													15	106					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1983318	1983318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:1983318C>A	ENST00000399161.2	-	7	811	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E22*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	22					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGGCTGGTTCCACGGGAACT	0.448000													18	43					6.94344e-10	7.59625e-10	1	1	0
MZF1	7593	broad.mit.edu	37	19	59073868	59073868	+	Silent	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:59073868C>A	ENST00000215057.2	-	6	2336	c.1776G>T	c.(1774-1776)acG>acT	p.T592T	MZF1_ENST00000599369.1_Silent_p.T592T|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	592					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GTTTCTCGCCCGTGTGTACGC	0.677000													3	22					0.184627	0.186081	1	1	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	31					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44756829	44756829	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:44756829C>A	ENST00000372276.3	+	6	578	c.550C>A	c.(550-552)Cct>Act	p.P184T	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372285.3_Silent_p.I204I	NM_152854.2	NP_690593.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	85					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCTTCGGGATCCTGTTTGCCA	0.572000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	85					9.16793e-09	9.82004e-09	1	1	0
HTRA2	27429	broad.mit.edu	37	2	74757942	74757942	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr2:74757942G>C	ENST00000258080.3	+	2	1335	c.705G>C	c.(703-705)caG>caC	p.Q235H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.Q235H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	235	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGAGGATTCAGACTAAGGTGG	0.572000													43	123					0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6445578	6445578	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:6445578G>C	ENST00000377855.2	-	1	295	c.149C>G	c.(148-150)cCc>cGc	p.P50R	ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000608083.1_Intron|ACOT7_ENST00000361521.4_Intron	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	50						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GGCTCCACAGGGTGGGAGATC	0.652000													90	154					0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208072507	208072507	+	Silent	SNP	A	A	G			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:208072507A>G	ENST00000356522.4	-	3	648	c.327T>C	c.(325-327)tcT>tcC	p.S109S	CD34_ENST00000310833.7_Silent_p.S109S|CD34_ENST00000537704.1_Intron	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	109					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GTGACTGGACAGAAGAGTTTG	0.468000													130	64					0	0	1	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593632	45593632	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:45593632G>A	ENST00000270257.4	+	3	507	c.260G>A	c.(259-261)cGt>cAt	p.R87H	GEMIN7_ENST00000591607.1_Missense_Mutation_p.R87H|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R87H|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R87H	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	87					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GAGGGTGTGCGTGTGGCCGCC	0.642000													17	59					0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3273582	3273582	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:3273582C>T	ENST00000436008.2	-	11	2254	c.1792G>A	c.(1792-1794)Gag>Aag	p.E598K	SLC22A23_ENST00000380302.4_Missense_Mutation_p.E309K|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000490273.1_Missense_Mutation_p.E309K|SLC22A23_ENST00000406686.3_Missense_Mutation_p.E590K			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	590					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				ttgtgcagctcgatGATGGGT	0.627000													6	112					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47646784	47646784	+	Silent	SNP	G	G	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:47646784G>A	ENST00000413379.3	+	2	234	c.132G>A	c.(130-132)ttG>ttA	p.L44L	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Silent_p.L44L|SAE1_ENST00000598840.1_Silent_p.L44L|SAE1_ENST00000270225.7_Silent_p.L44L	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	44					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTGTCGGCTTGAAAGGACTTG	0.488000													15	92					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													2	4	---	---	---	---					
TXNIP	10628	broad.mit.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:145440061_145440064delAAAG	ENST00000369317.4	+	4	829_832	c.495_498delAAAG	c.(493-498)gaaaagfs	p.EK165fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417													123	642	---	---	---	---					
RP11-480I12.5	0	broad.mit.edu	37	1	202824806	202824807	+	RNA	DEL	GT	GT	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr1:202824806_202824807delGT	ENST00000443294.1	-	0	382																											TGTACTTGCCGTGGCGAGGGTC	0.515													8	38	---	---	---	---					
FSTL5	56884	broad.mit.edu	37	4	162954796	162954796	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr4:162954796delT	ENST00000306100.5	-	3	577	c.141delA	c.(139-141)caafs	p.Q47fs	RP11-497K21.1_ENST00000513093.1_RNA|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.Q46fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.Q46fs|FSTL5_ENST00000536695.1_Frame_Shift_Del_p.Q46fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	47						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAACTTTCTTGATTTTTTT	0.259													2	4	---	---	---	---					
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr6:39507890delG	ENST00000287152.7	-	13	1628	c.1534delC	c.(1534-1536)cgcfs	p.R512fs	KIF6_ENST00000373213.4_Frame_Shift_Del_p.R351fs|KIF6_ENST00000373216.3_Frame_Shift_Del_p.R512fs|KIF6_ENST00000373215.3_Frame_Shift_Del_p.R512fs|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498													8	254	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039498	49039498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr13:49039498delG	ENST00000267163.4	+	23	2621	c.2483delG	c.(2482-2484)agafs	p.R828fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	828	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGACTCCAAGATCAAGGTGT	0.363		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	16	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4721806	4721807	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:4721806_4721807insA	ENST00000263088.6	+	20	2158_2159	c.2027_2028insA	c.(2026-2031)cgagtcfs	p.V677fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.V677fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	677	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGGTGTTACCGAGTCTACGTGC	0.599													19	80	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													3	4	---	---	---	---					
ASNA1	439	broad.mit.edu	37	19	12856516	12856520	+	Frame_Shift_Del	DEL	GCGGG	GCGGG	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr19:12856516_12856520delGCGGG	ENST00000591090.1	+	5	654_658	c.552_556delGCGGG	c.(550-558)gagcggggcfs	p.RG185fs	ASNA1_ENST00000357332.3_Frame_Shift_Del_p.RG185fs			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	185					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding	p.E184_L187del(1)		endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCATCGTGGAGCGGGGCCTGGGCCG	0.644													12	84	---	---	---	---					
ZNF341	84905	broad.mit.edu	37	20	32336863	32336863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GV-A40G-01A-11D-A23M-08	TCGA-GV-A40G-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d8ded-e77d-4a18-b51b-57b52bd6bce6	5cea95d6-c3e3-44ec-ac10-4f5ff302ee90	g.chr20:32336863delC	ENST00000375200.1	+	4	839	c.474delC	c.(472-474)ggcfs	p.G158fs	ZNF341_ENST00000342427.2_Frame_Shift_Del_p.G158fs	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	158	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCCCCAGGGCCCCCCACCTG	0.537													21	49	---	---	---	---