Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OCEL1	79629	broad.mit.edu	37	19	17338656	17338656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:17338656C>T	uc002nfp.3	+	3	462	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	Homo sapiens occludin/ELL domain containing 1 (OCEL1), mRNA.	154										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TAGTAAGTACCCGCCAGTGAG	0.547000														35			33		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24993358	24993358	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:24993358C>T	uc001bjm.3	+	12	1905	c.1681C>T	c.(1681-1683)Cct>Tct	p.P561S	SRRM1_uc010oel.2_Missense_Mutation_p.P573S|SRRM1_uc009vrh.1_Missense_Mutation_p.P534S|SRRM1_uc009vri.1_Missense_Mutation_p.P490S|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	561	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCGACGGTCTCCTTCTCCCGC	0.507000														38			24		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664832	124664832	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:124664832G>A	uc003yqs.1	-	0	359	c.335C>T	c.(334-336)tCc>tTc	p.S112F		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	112										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGTAGCATGGAGGCGGCCTC	0.577000														34			5		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737337	74737337	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:74737337T>G	uc001dge.2	+	6	759	c.692T>G	c.(691-693)gTt>gGt	p.V231G	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.V231G|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.V231G|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.V130G	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	130						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	p.V130D(1)									ATACAGCAGGTTGGATACGGT	0.428000														245			20		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50732687	50732687	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:50732687G>A	uc001jhs.4	-	4	943	c.789C>T	c.(787-789)atC>atT	p.I263I	ERCC6_uc001jht.3_5'UTR|ERCC6_uc009xoe.3_Silent_p.I263I|ERCC6_uc001jhu.3_Silent_p.I263I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	263					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTAAGCATGATTTTTCTGG	0.448000								Direct reversal of damage;Nucleotide excision repair (NER)						62			93		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657211	40657211	+	Silent	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:40657211A>C	uc002rrx.3	-	0	234	c.210T>G	c.(208-210)tcT>tcG	p.S70S	SLC8A1_uc002rry.3_Silent_p.S70S|SLC8A1_uc002rsb.2_Silent_p.S70S|SLC8A1_uc002rrz.3_Silent_p.S70S|SLC8A1_uc002rsa.3_Silent_p.S70S|SLC8A1_uc002rsd.4_Silent_p.S70S|SLC8A1_uc010fan.1_Silent_p.S70S|SLC8A1_uc002rsc.1_Silent_p.S70S	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	70					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTCCCCAAAAGAAGGGTCTT	0.423000														172			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453137	+	Missense_Mutation	DNP	AC	CT	CT	rs121913377		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:140453136_140453137AC>CT	uc003vwc.4	-	14	1859_1860	c.1798_1799GT>AG	c.(1798-1800)gtg>AGg	p.V600R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAGA	0.366000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)|V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					172			102		0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33881075	33881075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:33881075G>A	uc001mve.3	-	2	743	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	LMO2_uc001mvc.3_Missense_Mutation_p.R95C|LMO2_uc001mvd.3_Missense_Mutation_p.R95C|LMO2_uc010rel.2_Missense_Mutation_p.R102C|LMO2_uc010rem.2_Missense_Mutation_p.R171C	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	Homo sapiens LIM domain only 2 (rhombotin-like 1) (LMO2), transcript variant 3, mRNA.	102	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TCATAGGCACGAATCCGCTTG	0.478000			T	TRD@	T-ALL									77			33		0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703727	55703727	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:55703727C>T	uc010ris.2	-	0	150	c.150G>A	c.(148-150)ttG>ttA	p.L50L		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	50			L -> S (in dbSNP:rs4367963).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L50L(2)|p.L50S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATCCTGATCAACAGCATCA	0.403000														78			41		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404584	91404584	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:91404584G>A	uc001dnw.3	-	2	2610	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.S776L	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTTGATGATGAAAACAGGTG	0.343000														96			90		0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38323782	38323782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:38323782C>T	uc010cwt.1	+	8	1863	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L	CASC3_uc002hue.3_Missense_Mutation_p.S523L	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	523	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAACGCTATTCATCCCAGCGG	0.493000														35			31		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51771007	51771007	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:51771007G>A	uc001ryk.2	-	2	861	c.636C>T	c.(634-636)atC>atT	p.I212I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.I212I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	212	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACCAGTATGATCTCCTTGA	0.602000														39			18		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128339516	128339516	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128339516C>T	uc002top.3	+	10	1184	c.1131C>T	c.(1129-1131)atC>atT	p.I377I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	377	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATCCTCATCCGAGGGGAAT	0.627000														83			45		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356090	40356090	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:40356090G>A	uc003gva.1	+	4	1009	c.993G>A	c.(991-993)cgG>cgA	p.R331R		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	331					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCGAGGCCCGGCCGGTGCCAC	0.552000														211			64		0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56230836	56230836	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:56230836G>T	uc001sib.3	-	8	1632	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	MMP19_uc001sia.3_Missense_Mutation_p.T218N|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	504					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TTCAAACGTGGTTTCTGTGGC	0.537000														185			105		6.13486e-44	6.3641e-44	1	1	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397238	51397238	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:51397238G>A	uc001zyy.3	-	0	236	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	46										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAAGATAAGGGGATGAGTCTT	0.532000														54			83		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120613963	120613963	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:120613963A>C	uc001txo.3	-	9	909	c.896T>G	c.(895-897)aTc>aGc	p.I299S		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	299					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTTCACGATGTCCATGGC	0.507000														97			39		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370455	17370455	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:17370455G>A	uc002nfs.1	-	5	968	c.855C>T	c.(853-855)ccC>ccT	p.P285P	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.P221P|USHBP1_uc010eam.1_Silent_p.P213P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	285							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGACTGAGGGGCTGGTTGG	0.592000														123			107		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318448	79318448	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:79318448G>C	uc010mpk.3	-	8	8205	c.8081C>G	c.(8080-8082)cCa>cGa	p.P2694R	PRUNE2_uc004akj.4_Missense_Mutation_p.P147R|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.P147R|PRUNE2_uc022bih.1_Missense_Mutation_p.P2516R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2694					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGGCTGACTGGACCAGAGGC	0.537000														81			5		0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58538065	58538065	+	Silent	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:58538065A>G	uc002iys.1	-	8	1308	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	APPBP2_uc010ddl.1_Silent_p.S269S	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	340				S -> C (in Ref. 1; AAC83973).	intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGTGGACATAAGAAGAGTAGG	0.383000														36			30		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128437	103128437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:103128437C>T	uc001phn.1	+	69	10727	c.10583C>T	c.(10582-10584)gCt>gTt	p.A3528V	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.A3521V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3521					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTAGTTTGGCTGCTTTTCTC	0.428000														18			13		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117695	117695	+	RNA	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrGL000205.1:117695C>T	uc002kgk.4	+	0		c.1073C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGGTGGCCTCAGTAAAGGCT	0.597000														33			4		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50379360	50379360	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:50379360G>A	uc001nhe.2	+	5		c.843G>A			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		CAGAAACAAGGTTGAGCAGGT	0.383000														70			29		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745467	135745467	+	Silent	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:135745467T>C	uc002tue.1	-	6	1006	c.975A>G	c.(973-975)gaA>gaG	p.E325E	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.E212E|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.E53E|YSK4_uc002tui.4_Silent_p.E342E	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	325							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTGCCCTTTTTCAAAGTGAG	0.398000														63			35		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10309361	10309361	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:10309361C>A	uc002gmm.2	-	20	2524	c.2429G>T	c.(2428-2430)aGg>aTg	p.R810M	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	810	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGTTACCTCCTTTGCAACAT	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					108			32		6.02846e-25	6.20952e-25	1	1	0
FASTKD1	79675	broad.mit.edu	37	2	170416995	170416995	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:170416995C>A	uc002uev.4	-	4	1261	c.873G>T	c.(871-873)aaG>aaT	p.K291N	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.K277N|FASTKD1_uc002uey.2_Missense_Mutation_p.K254N	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	291					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CAGTTAGCTTCTTTTTAGCCA	0.328000														268			31		4.74835e-14	4.86519e-14	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38370559	38370559	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:38370559C>T	uc003jlc.2	+	5	1053	c.707C>T	c.(706-708)aCc>aTc	p.T236I	EGFLAM_uc003jlb.2_Missense_Mutation_p.T236I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	236	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R235R(1)|p.R235W(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCATCCGGACCCTCTGTGAG	0.577000														8			15		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695312	247695312	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:247695312G>A	uc021pmb.1	-	0	502	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P168S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCACACAGCGGTAGGAGCATG	0.542000														30			18		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33035909	33035909	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:33035909C>T	uc011kal.2	+	7	1514	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.L392F|FKBP9_uc011kam.2_Missense_Mutation_p.L160F	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	392	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAGATTACCTCAAATATCA	0.527000														84			57		0	0	1	0	0
ZNF581	51545	broad.mit.edu	37	19	56156207	56156207	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:56156207C>T	uc002qln.3	+	1	543	c.270C>T	c.(268-270)ccC>ccT	p.P90P	ZNF581_uc002qlq.3_Silent_p.P90P|ZNF581_uc021vcb.1_Silent_p.P90P|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		ACAGCTGCCCCGTGTGCTCAA	0.587000														47			44		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327203	150327203	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150327203G>A	uc022apv.1	-	1	508	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	GIMAP6_uc003whn.3_Missense_Mutation_p.P10S|GIMAP6_uc003whm.3_Missense_Mutation_p.P10S	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	10							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTCCTGGGGAATTTGTTCA	0.428000														323			21		0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42830599	42830599	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:42830599G>A	uc001uyp.3	+	31		c.4413G>A						Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 5, mRNA.						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AACTGTTATTGAACTTGGCTA	0.373000														48			11		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6782399	6782399	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:6782399C>T	uc003wqt.3	-	1	285	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	82					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAGGAATATTCTGTTGAATAA	0.448000														54			24		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122497	153122497	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153122497C>T	uc021ozu.1	-	0	90	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2G_uc009wod.2_Silent_p.P30P	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	30	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.607000														89			46		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431647	179431647	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179431647G>A	uc021vsy.1	-	274	71733	c.71508C>T	c.(71506-71508)acC>acT	p.T23836T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T17531T|TTN_uc021vta.1_Silent_p.T17464T|TTN_uc021vtb.1_Silent_p.T17339T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24763	Fibronectin type-III 73.						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)			TCCAACAGACGGTCATGGAGT	0.408000														167			57		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40236031	40236031	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40236031C>G	uc001ceb.1	-	0	990	c.897G>C	c.(895-897)agG>agC	p.R299S	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	299					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGATGCGCGTCCTGGCGTCCT	0.537000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			41		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19379700	19379700	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:19379700T>C	uc002zpf.1	-	8	1080	c.860A>G	c.(859-861)aAt>aGt	p.N287S	HIRA_uc011agx.1_Missense_Mutation_p.N153S|HIRA_uc010grn.1_Missense_Mutation_p.N287S|HIRA_uc010gro.2_Missense_Mutation_p.N243S|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	287					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AGAACTCCCATTCTTCTGCTT	0.463000														49			23		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035656	160035656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:160035656C>T	uc002uag.3	+	13	2766	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	TANC1_uc010fol.1_Missense_Mutation_p.A725V|TANC1_uc010zcm.2_Missense_Mutation_p.A823V|TANC1_uc010fom.1_Missense_Mutation_p.A637V	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	831						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAAAACACGGCCTTCCTGTGT	0.542000														55			81		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151073	18151073	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:18151073C>T	uc002gsr.1	-	19	2436	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	FLII_uc002gsq.1_Silent_p.L666L|FLII_uc010vxn.1_Silent_p.L764L|FLII_uc010vxo.1_Silent_p.L740L|FLII_uc002gss.1_Silent_p.L794L	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	795	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CAGCGCGCACCAGGCGCGGGG	0.697000														22			21		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194513	169194513	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:169194513G>A	uc003irp.3	-	17	2783	c.2491C>T	c.(2491-2493)Cgt>Tgt	p.R831C		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	831	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCGTAAAACGATTCTGAACA	0.393000														32			34		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124272418	124272418	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:124272418G>A	uc001uft.4	+	9	1331	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	DNAH10_uc010tav.1_5'Flank|DNAH10_uc010taw.1_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	436	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E435G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTGGAAAAAGGCCTATTTTGA	0.557000														20			11		0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384215	101384215	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:101384215G>A	uc003dve.4	-	3	1446	c.1216C>T	c.(1216-1218)Cat>Tat	p.H406Y		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTCAGGATGGGAATCAGCT	0.423000														87			55		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405532	40405532	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:40405532T>G	uc002rrx.3	-	1	1934	c.1910A>C	c.(1909-1911)aAg>aCg	p.K637T	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.K637T|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	637					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCCACCTTTCTTCTCACTCAT	0.507000														319			17		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309123	21309123	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:21309123G>A	uc001iqk.3	-	2	526	c.172C>T	c.(172-174)Ccg>Tcg	p.P58S	NEBL_uc021pnu.1_Missense_Mutation_p.P58S	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	720				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTGCTTCGGGTAGTGTCTG	0.413000														27			38		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516168	140516169	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140516168_140516169CC>TT	uc003liq.3	+	0	1369_1370	c.1152_1153CC>TT	c.(1150-1155)atccag>atTTag	p.Q385*		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	385	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCTCCATCCAGAATGATCT	0.480000														62			27		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136029624	136029624	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:136029624G>A	uc010nab.3	-	6	702	c.421C>T	c.(421-423)Cct>Tct	p.P141S	RALGDS_uc011mcw.2_Intron|RALGDS_uc011mcx.2_Silent_p.F111F|RALGDS_uc004ccw.3_Silent_p.F128F|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_3'UTR			Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTGACTCCAGGAAGGACTGGA	0.607000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									10			26		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109968439	109968440	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:109968439_109968440GG>AA	uc001top.3	+	25	3501_3502	c.2898_2899GG>AA	c.(2896-2901)ccggat>ccAAat	p.D967N	UBE3B_uc001toq.3_Missense_Mutation_p.D967N|UBE3B_uc001tos.3_Missense_Mutation_p.D394N|UBE3B_uc001tot.3_Missense_Mutation_p.D85N|UBE3B_uc010sxp.1_Missense_Mutation_p.D85N	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	967	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ACTTCACACCGGATGAGAGAGC	0.431000														95			42		0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23731181	23731181	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:23731181G>A	uc003swo.4	+	3	692	c.603G>A	c.(601-603)gcG>gcA	p.A201A	FAM221A_uc003swq.4_Silent_p.A201A|FAM221A_uc003swr.4_Silent_p.A143A|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	201																	GCTCGCTGGCGGAAGGCTACA	0.438000														283			34		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10975828	10975828	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:10975828G>A	uc003bvz.3	+	11	1585	c.1551G>A	c.(1549-1551)atG>atA	p.M517I		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	517					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGTGCTGGATGATCATGACCC	0.557000														79			52		0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58477473	58477473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:58477473C>T	uc001nnb.3	-	5	812	c.657G>A	c.(655-657)tgG>tgA	p.W219*		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	219					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CCATTAGATCCCAGCACACAG	0.552000														97			53		0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492804	62492804	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:62492804A>G	uc002jei.3	-	0	381	c.283T>C	c.(283-285)Tgc>Cgc	p.C95R	POLG2_uc010deg.2_Missense_Mutation_p.C95R	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	Homo sapiens polymerase (DNA directed), gamma 2, accessory subunit (POLG2), nuclear gene encoding mitochondrial protein, mRNA.	95					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCGGGGTGGCACCCACTCAGA	0.587000														59			44		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49412401	49412401	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:49412401G>A	uc002efr.3	+	2	334	c.291G>A	c.(289-291)agG>agA	p.R97R		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	97										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGAGATTCAGGAAGGACGCCG	0.572000														10			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405705	106405705	+	RNA	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:106405705C>T	uc021ser.1	-	3033		c.50087G>A								Parts of antibodies, mostly variable regions.																		GATGGTTATTCGACTTTTCAC	0.493000														148			101		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39261635	39261636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:39261635_39261636GG>AA	uc001uwv.3	+	0	463_464	c.154_155GG>AA	c.(154-156)ggc>AAc	p.G52N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	52					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CGCTGCCTTCGGCAGGGCGTTG	0.703000														8			6		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917684	4917685	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:4917684_4917685GG>AA	uc003snj.1	-	1	259_260	c.86_87CC>TT	c.(85-87)tcc>tTT	p.S29F	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	29					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TCAGCGTCCGGGACAGCATGCT	0.629000														15			9		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86253854	86253854	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:86253854G>T	uc022axc.1	-	0	90	c.11C>A	c.(10-12)cCa>cAa	p.P4Q	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.P4Q|CA1_uc022axd.1_Missense_Mutation_p.P4Q|CA1_uc010mae.2_Missense_Mutation_p.P4Q|CA1_uc003ydi.3_Missense_Mutation_p.P4Q	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	4					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCCCAGTCTGGACTTGCCAT	0.338000														64			18		6.94344e-10	7.04005e-10	1	1	0
EPHA6	285220	broad.mit.edu	37	3	96962802	96962802	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:96962802C>A	uc010how.1	+	4	1320	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	EPHA6_uc003drp.1_Missense_Mutation_p.P426H	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	331	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTAGGGCCACCTTCAGCTCCT	0.378000														23			5		0.014758	0.0148343	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248058996	248058996	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248058996C>T	uc010pzb.2	+	0	108	c.108C>T	c.(106-108)ctC>ctT	p.L36L	OR2W3_uc001idp.1_Silent_p.L36L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y35*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGCGTACCTCCTGACCCTCG	0.577000														113			64		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94120193	94120193	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:94120193G>A	uc001ybv.1	+	34	5924	c.5841G>A	c.(5839-5841)acG>acA	p.T1947T	UNC79_uc001ybs.1_Silent_p.T1925T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2102						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAAGCACGATCAAAGGTA	0.547000														235			130		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269572	40269572	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40269572G>A	uc002hyx.2	-	9	1531	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	491					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTCCAGGCGGGCTGTCTCA	0.667000														20			19		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47774325	47774325	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:47774325G>A	uc022bvq.1	+	4	529	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF81_uc010nhy.2_Missense_Mutation_p.G94R	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	94						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CTTTTTAGATGGGAAATTTGG	0.338000														10			19		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616979	77616979	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:77616979G>A	uc003yau.2	+	1	1043	c.656G>A	c.(655-657)gGa>gAa	p.G219E	ZFHX4_uc003yat.1_Missense_Mutation_p.G219E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G219E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCATTAGCAGGAGTTGGTCCT	0.468000										HNSCC(33;0.089)				33			5		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53607976	53607976	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:53607976G>A	uc004dsp.3	-	42	5933	c.5531C>T	c.(5530-5532)tCa>tTa	p.S1844L	HUWE1_uc004dsn.3_Missense_Mutation_p.S669L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1844					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTAGCTGCTGAGCGAACAAC	0.468000														7			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084665	9084665	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:9084665C>T	uc002mkp.3	-	0	7354	c.7150G>A	c.(7150-7152)Gat>Aat	p.D2384N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2384	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTAGTGACATCCATAGTTGAA	0.473000														41			15		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11862254	11862254	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:11862254G>A	uc002dbk.3	-	10	1475	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L	ZC3H7A_uc002dbj.3_5'Flank|ZC3H7A_uc002dbl.3_Missense_Mutation_p.P426L|ZC3H7A_uc002dbm.2_Missense_Mutation_p.P336L	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	426						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGATGAAGATGGTTTGGTAAC	0.418000														161			38		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977722	70977722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:70977722C>T	uc002ezr.3	-	41	6810	c.6659G>A	c.(6658-6660)cGg>cAg	p.R2220Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2221										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)				CACCTGTATCCGCTCTGCCAG	0.617000														36			14		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3664331	3664331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:3664331C>T	uc002fwo.4	-	5	673	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	192	Glu-rich (acidic).|X-domain (extra domain).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		tcctcgtcttcctcctcctcc	0.582000														42			72		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73157135	73157135	+	RNA	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:73157135C>T	uc022avu.1	-	2		c.467G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		GGGGCGCAATCATGTTGAAGT	0.517000														75			19		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160506	70160506	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70160506G>A	uc003hej.3	+	5	1571	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	523					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTAGAAAAGGGAAGAAGGGAA	0.388000														78			20		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83332714	83332714	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:83332714C>T	uc010uoi.2	-	19	2452	c.2275G>A	c.(2275-2277)Gag>Aag	p.E759K	AP3B2_uc010uoh.2_Missense_Mutation_p.E740K|AP3B2_uc010uoj.2_Missense_Mutation_p.E708K|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.E376K|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	740	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTACCATCCTCCTCACTCTGT	0.522000														27			15		0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521071	62521071	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:62521071G>A	uc001nuz.3	-	1	338	c.216C>T	c.(214-216)ttC>ttT	p.F72F		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGTCACAAAGGAAACCCTGGG	0.582000														22			16		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531908	50531908	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:50531908C>T	uc021pqb.1	+	0	1318	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	C10orf71_uc021pqa.1_Missense_Mutation_p.P439S|C10orf71_uc021pqc.1_Missense_Mutation_p.P440S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	440										endometrium(1)	1						TTATGATCCCCCCTTTAACAT	0.527000														32			51		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60704047	60704047	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:60704047C>T	uc001nqi.3	+	10	2936	c.2743C>T	c.(2743-2745)Cct>Tct	p.P915S	TMEM132A_uc001nqj.3_Missense_Mutation_p.P914S	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	914	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCGGCAGTCCCCTGGCCCGCC	0.726000														32			13		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131296312	131296312	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:131296312G>A	uc003kvx.2	-	18	1969	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.A585A|ACSL6_uc003kvy.2_Silent_p.A620A|ACSL6_uc003kvz.2_Silent_p.A520A|ACSL6_uc021ydh.1_Silent_p.A520A|ACSL6_uc010jdo.2_Silent_p.A595A|ACSL6_uc003kwa.2_Silent_p.A606A|ACSL6_uc003kvw.2_Silent_p.A241A|ACSL6_uc010jdn.2_Silent_p.A610A	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	595					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACCAAAAAGGCCTGCAGTG	0.443000														16			21		0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64147735	64147735	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:64147735G>A	uc002scq.3	-	13	2059	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S	VPS54_uc002scp.3_Silent_p.S620S|VPS54_uc002scn.3_5'Flank|VPS54_uc002sco.3_Silent_p.S117S|VPS54_uc010fct.3_Silent_p.S479S	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	632					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TGAATTCCATGGAATTTAGCT	0.328000														64			8		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847525	131847525	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:131847525C>T	uc004bxc.3	+	3	330	c.302C>T	c.(301-303)tCc>tTc	p.S101F	DOLPP1_uc004bxd.3_Missense_Mutation_p.S101F|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	101					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						GGGATGCCCTCCAGCCATTCC	0.572000														121			29		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:70981484G>A	uc003xym.3	-	1	814	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000														37			15		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475141	50475141	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:50475141G>A	uc010ybk.1	+	2	172	c.66G>A	c.(64-66)ctG>ctA	p.L22L	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						TCCGGGTCCTGGAGGGCCAAA	0.662000														33			10		0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23946722	23946722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:23946722C>T	uc001wjy.3	+	9	908	c.881C>T	c.(880-882)cCt>cTt	p.P294L	NGDN_uc001wjz.3_Missense_Mutation_p.P294L	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	294					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GATCAGAATCCTATTAAGAAG	0.478000														31			26		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32696142	32696142	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:32696142A>G	uc010ezu.3	+	31	6676	c.6542A>G	c.(6541-6543)tAt>tGt	p.Y2181C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2181					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGCTGGATTATGTGGCAACT	0.418000														11			4		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85051325	85051325	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:85051325C>T	uc010ysl.2	-	5	1175	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G	C2orf89_uc002sou.4_Silent_p.G313G	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	362						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						TTTTACTCTTCCCTCTGTACG	0.552000														31			21		0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115576111	115576111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:115576111G>A	uc004eqi.3	+	5	813	c.682G>A	c.(682-684)Gga>Aga	p.G228R	SLC6A14_uc011mtm.2_Non-coding_Transcript	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	228					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACGGTCAAGTGGAATGAATGA	0.373000														29			55		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68035871	68035871	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:68035871C>T	uc001xjl.1	+	7	1422	c.1280C>T	c.(1279-1281)gCt>gTt	p.A427V	PLEKHH1_uc010tsw.1_5'UTR|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	427						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CGGATCTATGCTGTGGCCACA	0.572000														58			26		0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184692900	184692900	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:184692900C>G	uc010pom.2	-	7	1099	c.838G>C	c.(838-840)Gat>Cat	p.D280H	EDEM3_uc010pok.2_Missense_Mutation_p.D280H|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Missense_Mutation_p.D203H	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	280					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTACCCAATCTCCAGTATGA	0.328000														164			33		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457420	27457420	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:27457420G>A	uc003xfy.2	-	6	1221	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	CLU_uc003xfw.2_Silent_p.S347S|CLU_uc003xfx.2_Silent_p.S347S|CLU_uc003xfz.2_Silent_p.S347S	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	347					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TCCACTGGTAGGACTTTAGCA	0.582000														34			8		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626047	102626047	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:102626047C>T	uc002tbm.3	+	2	320	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	IL1R2_uc002tbn.3_Missense_Mutation_p.R31C|IL1R2_uc002tbo.1_Missense_Mutation_p.R31C	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	31	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.F30I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTGCCGGTTTCGTGGGAGGCA	0.612000														235			70		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121429346	121429346	+	Missense_Mutation	SNP	C	T	T	rs148966249		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:121429346C>T	uc001pxx.3	+	19	2839	c.2710C>T	c.(2710-2712)Cgg>Tgg	p.R904W		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	904					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGGATTTATCGGAGCAATAT	0.507000														74			84		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585287	82585287	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:82585287C>T	uc003uhx.2	-	4	5271	c.4982G>A	c.(4981-4983)gGa>gAa	p.G1661E	PCLO_uc003uhv.2_Missense_Mutation_p.G1661E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1592					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1661*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAGCCCTCCTCCTCCAGTAAC	0.368000														162			104		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:20414379G>A	uc003zoe.2	-	4	724	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_uc011lne.1_Silent_p.S123S|MLLT3_uc011lnf.1_Silent_p.S152S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL									47			5		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798870	84798870	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:84798870A>T	uc003pkg.4	+	3	478	c.288A>T	c.(286-288)agA>agT	p.R96S	MRAP2_uc010kbo.3_Missense_Mutation_p.R10S	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	96					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACTTTGGAAGACCTCTGGAGC	0.438000														86			30		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33496585	33496585	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:33496585G>A	uc001iwx.4	-	9	2197	c.1674C>T	c.(1672-1674)tcC>tcT	p.S558S	NRP1_uc001iwv.4_Silent_p.S558S|NRP1_uc001iwy.4_Silent_p.S558S|NRP1_uc009xlz.3_Silent_p.S558S|NRP1_uc001iww.4_Silent_p.S377S|NRP1_uc001iwz.2_Silent_p.S558S|NRP1_uc001ixa.2_Silent_p.S558S|NRP1_uc001ixb.2_Silent_p.S558S	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	558	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGAATCGCGTGGAGAGAGCTG	0.493000														123			53		0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33746014	33746014	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:33746014C>T	uc001bxc.1	+	4	809	c.639C>T	c.(637-639)ccC>ccT	p.P213P		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCCCTATCCCATCCTGGCCT	0.677000														17			6		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98501098	98501098	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:98501098C>T	uc003upp.3	+	11	1203	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	TRRAP_uc011kis.2_Silent_p.L332L|TRRAP_uc003upr.3_Silent_p.L24L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	332					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGGAGCTTCTGATTGCTGC	0.488000														134			150		0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13215788	13215788	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:13215788G>A	uc002mwj.2	-	15	2191	c.1941C>T	c.(1939-1941)ccC>ccT	p.P647P	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Silent_p.P251P|TRMT1_uc002mwk.2_Silent_p.P618P|TRMT1_uc002mwl.3_Silent_p.P647P	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	647							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CAGGTCCAGGGGGGGTCTGGT	0.602000											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		209			55		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31727646	31727646	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31727646T>C	uc003nwu.2	+	17	1707	c.1579T>C	c.(1579-1581)Tcc>Ccc	p.S527P	MSH5_uc003nwx.2_Missense_Mutation_p.S544P|MSH5_uc003nwv.2_Missense_Mutation_p.S527P|MSH5_uc003nww.2_Missense_Mutation_p.S527P|MSH5_uc011dof.1_Missense_Mutation_p.S226P|MSH5_uc003nwy.1_Missense_Mutation_p.S201P|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	527					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						GGACCTTGCCTCCCGCCTGGA	0.602000								Direct reversal of damage;Mismatch excision repair (MMR)						60			56		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018563	1018563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:1018563C>T	uc001lsw.2	-	30	4289	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1413	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.A1412A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGGGACTCCCCGCCGTAGG	0.582000														75			51		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648069	41648069	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:41648069C>T	uc002yyq.1	-	10	2763	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	771	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCCACATCGTTGCTGACC	0.483000														58			24		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498356	106498356	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:106498356C>G	uc002tdg.3	+	3	1075	c.799C>G	c.(799-801)Cca>Gca	p.P267A	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.P267A	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	267					T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						TGCGCACGCCCCACAGATAAG	0.662000														65			17		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518128	108518129	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:108518128_108518129GG>AA	uc001vql.3	-	0	1332_1333	c.816_817CC>TT	c.(814-819)gaccac>gaTTac	p.H273Y		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	273						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGAGCATGGTGGTCATAGTCCT	0.510000														44			58		0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34533114	34533114	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:34533114C>T	uc001mvo.1	-	0	233	c.3G>A	c.(1-3)atG>atA	p.M1I	ELF5_uc021qft.1_Missense_Mutation_p.M1I|ELF5_uc001mvp.2_Intron|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Intron	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	1					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				GCAGAGATGGCATGGAAGCTG	0.537000														46			17		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62340966	62340966	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:62340966G>A	uc001dab.3	+	20	3001	c.2887G>A	c.(2887-2889)Gga>Aga	p.G963R	INADL_uc009waf.1_Missense_Mutation_p.G963R|INADL_uc001daa.2_Missense_Mutation_p.G963R|INADL_uc001dad.3_Missense_Mutation_p.G660R|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	963					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCAACTGAAGGAAACAGTCA	0.338000														83			53		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493760	20493760	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:20493760A>T	uc002wrz.3	-	31	4396	c.4253T>A	c.(4252-4254)tTt>tAt	p.F1418Y	RALGAPA2_uc002wry.3_Missense_Mutation_p.F1033Y|RALGAPA2_uc010zsg.2_Missense_Mutation_p.F866Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.F190Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1418					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAACACCTCAAAGGACAGCTC	0.552000														43			19		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113323	117113323	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:117113323T>G	uc003pxj.1	-	5	2785	c.2763A>C	c.(2761-2763)aaA>aaC	p.K921N	GPRC6A_uc003pxk.1_Missense_Mutation_p.K746N|GPRC6A_uc003pxl.1_Missense_Mutation_p.K850N	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	921					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTGACATTCTTTTTCGAGGCA	0.388000														173			45		0	0	1	0	0
AK022914	0	broad.mit.edu	37	22	16150995	16150995	+	RNA	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:16150995C>T	uc002zks.4	-	7		c.1662G>A								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CCAATTTCTTCAGCAAGTTGT	0.388000														34			8		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007852	6007852	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6007852G>A	uc001mcd.2	-	0	364	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGAACCAGGAGCACTGCAA	0.547000														27			12		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38424495	38424495	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:38424495G>A	uc003tgu.3	-	20	2228	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	AMPH_uc003tgv.3_Missense_Mutation_p.S629L|AMPH_uc003tgt.3_Missense_Mutation_p.S556L	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	671	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGCCAGTCTGATTCCTTCAC	0.478000														123			110		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151927076	151927076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:151927076C>T	uc003wla.3	-	17	3127	c.2908G>A	c.(2908-2910)Gca>Aca	p.A970T	MLL3_uc003wkz.3_Missense_Mutation_p.A31T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	970					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A970A(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTTCCTTCTGCTCCTTGGCCA	0.353000			N		medulloblastoma									598			30		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94063865	94063865	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:94063865C>T	uc001ybv.1	+	20	2903	c.2820C>T	c.(2818-2820)acC>acT	p.T940T	UNC79_uc001ybs.1_Silent_p.T940T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1117						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGCTTGACACCATAAAGAGGC	0.517000														28			34		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8239147	8239147	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:8239147C>T	uc003wsh.4	-	0	111	c.111G>A	c.(109-111)cgG>cgA	p.R37R		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	37							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTGGTCGCTCCGCAGGCAGA	0.667000														36			5		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40948219	40948219	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40948219G>A	uc002ibj.3	+	16	3578	c.3510G>A	c.(3508-3510)caG>caA	p.Q1170Q	WNK4_uc010wgx.2_Silent_p.Q834Q|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1170					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGGGAAGCAGCCCCCACCGG	0.597000														26			32		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90281230	90281230	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:90281230C>T	uc003kju.3	+	84	18139	c.18043C>T	c.(18043-18045)Ctt>Ttt	p.L6015F	GPR98_uc003kjt.3_Missense_Mutation_p.L3721F|GPR98_uc003kjw.3_Missense_Mutation_p.L1676F|GPR98_uc003kjx.3_Missense_Mutation_p.L43F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	6015					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTGTTTTTCCTTCTGAGTTG	0.408000														27			8		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151894524	151894524	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:151894524C>T	uc003qol.3	+	5	1079	c.990C>T	c.(988-990)atC>atT	p.I330I		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	330																	GGGAGAAAATCGCAGCCCTCC	0.498000														69			33		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160596	75160596	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:75160596G>A	uc001owo.4	-	8	1071	c.534C>T	c.(532-534)atC>atT	p.I178I	GDPD5_uc001owp.4_Silent_p.I178I|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Silent_p.I40I|GDPD5_uc009yud.3_Silent_p.I59I|GDPD5_uc009yue.1_Silent_p.I66I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	178					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTCCTGCCACGATCCAGGAGA	0.637000														5			3		0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45470428	45470428	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:45470428G>A	uc009vxk.3	-	15	2084	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	HECTD3_uc001cmx.4_Silent_p.F11F|HECTD3_uc001cmy.4_Silent_p.F272F|HECTD3_uc010olh.2_Silent_p.F378F	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	662	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCCAAACTTGAACTCAAACG	0.527000														122			63		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54280841	54280841	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:54280841T>C	uc003haa.3	+	10	1061	c.875T>C	c.(874-876)gTt>gCt	p.V292A	PDGFRA_uc003gzx.4_Missense_Mutation_p.V277A|PDGFRA_uc011bzt.1_Intron|PDGFRA_uc003gzy.3_Missense_Mutation_p.V292A|PDGFRA_uc011bzu.2_Missense_Mutation_p.V277A|PDGFRA_uc003gzz.3_Intron|PDGFRA_uc003hab.3_Missense_Mutation_p.V257A|PDGFRA_uc010ign.3_Intron	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	0	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATTCAAGCGTTGGGAAGTGG	0.398000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				54			15		0	0	1	0	0
GPR126	57211	broad.mit.edu	37	6	142691824	142691824	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:142691824C>T	uc010khe.3	+	3	1374	c.963C>T	c.(961-963)atC>atT	p.I321I	GPR126_uc010khc.3_Silent_p.I321I|GPR126_uc010khd.3_Silent_p.I321I|GPR126_uc010khf.3_Silent_p.I321I|GPR126_uc003qix.2_Silent_p.I321I	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	321	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATGCCAAAATCCTCTCCAACC	0.393000														215			46		0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065650	2065650	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:2065650C>T	uc003geq.2	+	2	705	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	235	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGCTGGAGTTCGCCGTGGTGC	0.652000														20			13		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83036530	83036530	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:83036530C>T	uc003uhy.2	-	6	1317	c.696G>A	c.(694-696)atG>atA	p.M232I	SEMA3E_uc022agy.1_Missense_Mutation_p.M172I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	232	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGTCAGGAATCATGTATGAAC	0.333000														76			41		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142850	31142851	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:31142850_31142851GG>AA	uc003tca.2	+	14	1336	c.1047_splice	c.e14-1	p.L349_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.L377_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.L376_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.L328_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.L377_splice|ADCYAP1R1_uc003tcf.1_Splice_Site_p.L107_splice	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	349					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCCTCCGACAGGCGACTGGCCC	0.579000														272			24		0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177437	153177437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153177437C>T	uc001fbl.3	+	1	364	c.254C>T	c.(253-255)tCc>tTc	p.S85F	LELP1_uc021ozv.1_Missense_Mutation_p.S85F	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	85	Cys/Pro-rich.							p.S85S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCTTCATCCTGCCCACAT	0.642000														28			14		0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615609	140615609	+	Missense_Mutation	SNP	G	A	A	rs2909999	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140615609G>A	uc003ljc.1	+	0	1672	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GCCGCCCCAGGACCCGCACCT	0.652000														242			9		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4281537	4281537	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:4281537C>A	uc003smx.3	+	42	6382	c.6243C>A	c.(6241-6243)aaC>aaA	p.N2081K	SDK1_uc010kso.3_Missense_Mutation_p.N1337K|SDK1_uc003smy.3_Missense_Mutation_p.N568K|SDK1_uc003smz.3_Missense_Mutation_p.N141K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2081					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAAGAAGAACGGGACCAGGT	0.642000														44			34		1.04352e-10	1.05988e-10	1	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18534812	18534812	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:18534812C>T	uc001rdt.3	+	12	1986	c.1870C>T	c.(1870-1872)Cag>Tag	p.Q624*	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Nonsense_Mutation_p.Q665*|PIK3C2G_uc010sic.2_Nonsense_Mutation_p.Q443*	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	624					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GGTGACCCTGCAGGTAAGTGC	0.448000														97			12		0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770101	87770101	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:87770101C>T	uc003hqd.2	-	0	316	c.168G>A	c.(166-168)cgG>cgA	p.R56R		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	56						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCACAGCTTCCGGATCTCCA	0.547000														30			11		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73718015	73718015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:73718015G>A	uc002sje.1	+	9	9037	c.8926G>A	c.(8926-8928)Gat>Aat	p.D2976N	ALMS1_uc002sjf.1_Missense_Mutation_p.D2934N|ALMS1_uc002sjg.3_Missense_Mutation_p.D2364N|ALMS1_uc002sjh.1_Missense_Mutation_p.D2364N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2976					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCCAGGTGTAGATGACCAAAT	0.408000														212			40		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906375	5906375	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:5906375C>T	uc010qzs.2	+	0	853	c.853C>T	c.(853-855)Cca>Tca	p.P285S	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTGTCCCACCTGCCCT	0.378000														110			50		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15815318	15815318	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:15815318C>T	uc002ddx.3	-	32	4667	c.4560G>A	c.(4558-4560)atG>atA	p.M1520I	MYH11_uc002ddv.3_Missense_Mutation_p.M1520I|MYH11_uc002ddw.3_Missense_Mutation_p.M1513I|MYH11_uc002ddy.3_Missense_Mutation_p.M1513I|MYH11_uc010bvg.3_Missense_Mutation_p.M1345I|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.M219I|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1513					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGGTCTTCCATTTCGGCTT	0.552000			T	CBFB	AML									60			18		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18706074	18706074	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:18706074G>A	uc003sui.3	+	10	1747	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	HDAC9_uc003sue.3_Missense_Mutation_p.G566E|HDAC9_uc011jyd.2_Missense_Mutation_p.G566E|HDAC9_uc003suh.3_Missense_Mutation_p.G566E|HDAC9_uc003suj.3_Missense_Mutation_p.G525E|HDAC9_uc011jya.2_Missense_Mutation_p.G564E|HDAC9_uc003sua.1_Missense_Mutation_p.G544E|HDAC9_uc003sud.2_Missense_Mutation_p.G566E|HDAC9_uc011jyc.2_Missense_Mutation_p.G525E|HDAC9_uc011jyb.2_Missense_Mutation_p.G522E|HDAC9_uc003suf.2_Missense_Mutation_p.G597E|HDAC9_uc010kud.2_Missense_Mutation_p.G569E|HDAC9_uc011jye.2_Missense_Mutation_p.G538E|HDAC9_uc011jyf.2_Missense_Mutation_p.G489E|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	566					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAATCTGGGGAGCAGGCT	0.453000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			27		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665906	25665906	+	Silent	SNP	C	T	T	rs144239727		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:25665906C>T	uc003grr.3	+	3	414	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SLC34A2_uc003grs.3_Silent_p.F110F|SLC34A2_uc010iev.3_Silent_p.F110F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	111					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.F111F(2)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCTACTTTTTCGTGTGCTCCC	0.483000			T	ROS1	NSCLC									79			19		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475293	77475293	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:77475293C>T	uc002lnh.2	+	7	1980	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	CTDP1_uc002lni.2_Silent_p.Y611Y|CTDP1_uc010drd.2_Silent_p.Y611Y|CTDP1_uc021ult.1_Silent_p.Y492Y	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	611					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATGACCGCTACCTCAACAAGG	0.562000														12			3		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826576	34826576	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:34826576G>A	uc003oju.4	+	13	2677	c.2443G>A	c.(2443-2445)Gat>Aat	p.D815N	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	815								p.A814A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGATGTAGCAGATGTTCATAT	0.507000														250			49		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	52005530	52005530	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:52005530G>A	uc002abh.3	+	11	1611	c.1208_splice	c.e11-1	p.G403_splice	SCG3_uc010ufz.2_Splice_Site_p.G171_splice	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	403					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCTCTTCCAGGAAAAACAGAA	0.348000														46			44		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087944	9087944	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:9087944G>A	uc002mkp.3	-	0	4075	c.3871C>T	c.(3871-3873)Cat>Tat	p.H1291Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1291	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGATACATGAATGTGGGTC	0.483000														169			127		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541727	190541727	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:190541727T>C	uc002uqw.2	+	1	599	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Missense_Mutation_p.F171L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	171						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACGAGCTAGATTCTCTGAATT	0.363000														66			23		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126934	40126934	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40126934C>T	uc001cdq.1	-	5	557	c.557_splice	c.e5-1	p.G186_splice		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	186					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCTGCGATCCCTAGGCAGA	0.607000														31			16		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400487	67400487	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:67400487C>T	uc001omp.3	-	4	725	c.637G>A	c.(637-639)Gag>Aag	p.E213K		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	213					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TTGAAGTTCTCCTGGGCATAG	0.567000														211			104		0	0	1	0	0
FAM217B	63939	broad.mit.edu	37	20	58520058	58520058	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:58520058G>A	uc021wft.1	+	0	1060	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	FAM217B_uc002yba.3_Missense_Mutation_p.G354R|FAM217B_uc002ybc.3_Missense_Mutation_p.G354R|FAM217B_uc010zzx.2_Missense_Mutation_p.G197R	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	354																	TAGGAAAAAGGGAAAGGCAGA	0.423000														126			21		0	0	1	0	0
HMSD	284293	broad.mit.edu	37	18	61627430	61627430	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:61627430G>A	uc010dqj.3	+	3	410	c.261G>A	c.(259-261)acG>acA	p.T87T	SERPINB8_uc002ljs.1_5'Flank	NM_001123366	NP_001116838	A8MTL9	HMSD_HUMAN	Homo sapiens histocompatibility (minor) serpin domain containing (HMSD), mRNA.	87						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ACCAAGCAACGATAAAACAGC	0.353000														67			28		0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1712822	1712823	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:1712822_1712823CC>TT	uc010uvh.2	+	11	2656_2657	c.2656_2657CC>TT	c.(2656-2658)cca>TTa	p.P886L	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	886						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCTGCGGAAGCCACTGGTGGTC	0.599000														32			14		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271556	59271556	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:59271556G>A	uc001noa.1	+	0	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G170R(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCCTTTCTGTGGACCCAATGT	0.512000														179			125		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810398	124810398	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:124810398C>T	uc003yqv.3	+	15	1541	c.1480C>T	c.(1480-1482)Cta>Tta	p.L494L	FAM91A1_uc011lik.1_Silent_p.L494L|FAM91A1_uc011lil.2_Silent_p.L252L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	494										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGCAGAGTTCTAAACAAAAA	0.473000														180			161		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5862774	5862774	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:5862774C>A	uc003gis.3	-	2	723	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	CRMP1_uc003giq.3_Missense_Mutation_p.V98L|CRMP1_uc003gir.3_Missense_Mutation_p.V93L	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	98					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTCCCGCCCACCAGTGCCGCC	0.577000														42			14		2.61681e-11	2.67181e-11	1	1	0
COL9A2	1298	broad.mit.edu	37	1	40778281	40778281	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:40778281C>T	uc001cfh.1	-	6	416	c.304_splice	c.e6-1	p.G102_splice	COL9A2_uc001cfi.1_Splice_Site	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	102	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGGGCTGGCCCTGCAGAAGC	0.632000														33			9		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31598499	31598499	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31598499T>C	uc003nvb.4	+	14	2635	c.2386T>C	c.(2386-2388)Ttc>Ctc	p.F796L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.F796L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	796	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.V795V(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGAGATGTCTTCACCGCCAC	0.587000														46			4		0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33346880	33346880	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:33346880G>A	uc002yph.3	+	6	1384	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	342					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTCTCTGGAAGATCTGAGCCC	0.582000														75			31		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166953	220166953	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:220166953C>T	uc002vkz.3	-	5	1141	c.900G>A	c.(898-900)ggG>ggA	p.G300G	PTPRN_uc010zlc.2_Silent_p.G210G|PTPRN_uc002vla.3_Silent_p.G300G	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	300					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCTGCTGCTCCCTTGCTCTG	0.617000														22			22		0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43855019	43855019	+	Missense_Mutation	SNP	G	A	A	rs145463901		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:43855019G>A	uc002zbe.3	+	9	1432	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N	UBASH3A_uc002zbf.3_Missense_Mutation_p.D412N|UBASH3A_uc010gpe.3_Missense_Mutation_p.D412N|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	450	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTTGAAAACGATCCCCCATT	0.433000														84			32		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185042	167185042	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:167185042G>A	uc003fes.1	-	2	380	c.309C>T	c.(307-309)ttC>ttT	p.F103F	SERPINI2_uc003fer.1_Silent_p.F93F|SERPINI2_uc003fet.1_Silent_p.F93F	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	93					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGATGGCAGAGAAAAATGACT	0.333000														40			26		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183714483	183714483	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:183714483G>A	uc003ivd.1	+	24	6733	c.6658G>A	c.(6658-6660)Ggc>Agc	p.G2220S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2220					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTACAGTAAAGGCAGTGGCTG	0.463000														54			19		0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45470430	45470430	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:45470430A>C	uc009vxk.3	-	15	2082	c.1984T>G	c.(1984-1986)Ttc>Gtc	p.F662V	HECTD3_uc001cmx.4_Missense_Mutation_p.F11V|HECTD3_uc001cmy.4_Missense_Mutation_p.F272V|HECTD3_uc010olh.2_Missense_Mutation_p.F378V	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	662	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CCAAACTTGAACTCAAACGTC	0.527000														122			61		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157506	22157506	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:22157506A>T	uc021urr.1	-	3	479	c.330T>A	c.(328-330)aaT>aaA	p.N110K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTAAGTGTAAATTCTCATGTC	0.353000														91			7		0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451626	83451626	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:83451626C>T	uc002bjd.2	-	3	1054	c.887G>A	c.(886-888)gGa>gAa	p.G296E	FSD2_uc010uol.1_Missense_Mutation_p.G296E|FSD2_uc010uom.1_Missense_Mutation_p.G296E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	296										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TAGGTTTTCTCCACAGCTGAC	0.388000														276			131		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863838	64863838	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:64863838C>T	uc021viq.1	-	0	168	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SERTAD2_uc002sde.2_Silent_p.E56E	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	56	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GCAAGCTGGGCTCTGTCAGGG	0.507000														172			89		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592457	50592457	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:50592457T>G	uc002lfe.2	+	6	1798	c.1182T>G	c.(1180-1182)gaT>gaG	p.D394E	DCC_uc010xdr.1_Missense_Mutation_p.D242E|DCC_uc010dpf.2_Missense_Mutation_p.D49E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	394	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGTCAGATGAAGGCTTTT	0.443000														152			28		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31592753	31592753	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:31592753C>T	uc011kae.2	+	1	205	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	CCDC129_uc011kad.1_Missense_Mutation_p.P49S|CCDC129_uc003tcj.1_Missense_Mutation_p.P39S|CCDC129_uc003tci.1_Missense_Mutation_p.P38S|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	39										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAGTGGCTGCCCCCTGACCC	0.547000														13			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236944	140236944	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140236944G>A	uc003lhx.2	+	0	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.T437T|PCDHAC2_uc011dad.2_Silent_p.T437T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGCGTGT	0.672000														120			7		0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43698844	43698844	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:43698844G>A	uc001jao.1	-	2	332	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	RASGEF1A_uc001jap.1_Silent_p.L75L	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	75	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CGGGAGCTCAGGAGAAAGGTG	0.652000														1			6		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13565975	13565975	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:13565975G>A	uc002mwy.3	-	1	581	c.345C>T	c.(343-345)ctC>ctT	p.L115L	CACNA1A_uc010xnd.2_Silent_p.L115L|CACNA1A_uc021ups.1_Silent_p.L115L|CACNA1A_uc010xne.2_Silent_p.L115L|CACNA1A_uc010dze.2_Silent_p.L115L|CACNA1A_uc021upt.1_Silent_p.L115L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	115					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTCCAGTGCGAGGACGATGC	0.453000														180			51		0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33741745	33741745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:33741745C>T	uc001bxc.1	+	2	253	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGCCCCCTCCTCCCACCATG	0.662000														70			33		0	0	1	0	0
MGC16703	113691	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	A	A	rs28522842	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:21363392G>A	uc002zty.4	-	2		c.1064C>T			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		GGGCCCCATCGAATCACAGGG	0.562000														103			5		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247215	7247215	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:7247215C>T	uc002ggd.2	+	7	815	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	203	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTACCCATTTCCAGCAGGGCC	0.652000														6			17		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119229727	119229727	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:119229727G>A	uc003ica.2	-	7	1542	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	499						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTCTGACAGGAAAACCTAAG	0.383000														60			67		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113384616	113384616	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:113384616C>T	uc001tug.3	+	3	792	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	235	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGACCATCTTCGCCTGGGAGC	0.587000														13			10		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287596	42287596	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:42287596G>A	uc010czs.3	-	14	1818	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	UBTF_uc002igc.3_Missense_Mutation_p.R471W|UBTF_uc002igd.3_Missense_Mutation_p.R471W|UBTF_uc010czt.3_Missense_Mutation_p.R508W|UBTF_uc002ige.2_Missense_Mutation_p.R471W	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	508					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTTCACCCGGTCATTCTGG	0.532000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		145			41		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39878705	39878705	+	Silent	SNP	T	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:39878705T>A	uc003guv.4	-	18	2601	c.2061A>T	c.(2059-2061)ctA>ctT	p.L687L		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	687					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CCTCCATTCTTAGGCACTGTA	0.408000														77			59		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67713728	67713728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:67713728G>A	uc002aqo.2	+	15	2415	c.2318G>A	c.(2317-2319)gGg>gAg	p.G773E	IQCH_uc002aqp.2_Missense_Mutation_p.G434E|IQCH_uc002aqq.2_Missense_Mutation_p.G430E|LOC100506686_uc002aqr.2_Non-coding_Transcript|LOC100506686_uc021spf.1_Non-coding_Transcript	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	773										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGTCGACAGGGGACCAGCTT	0.537000														63			35		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879506	27879506	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:27879506C>T	uc011dkw.2	-	0	669	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A197V(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGAATAGTTCAGCCTCATTT	0.438000														160			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133618124	133618124	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:133618124G>A	uc002ttp.3	-	10	1122	c.748C>T	c.(748-750)Cga>Tga	p.R250*	NCKAP5_uc002ttq.3_Nonsense_Mutation_p.R250*	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	250			R -> Q (in dbSNP:rs58963837).				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						CTTAGTGTTCGATTCTGCTGT	0.413000														9			6		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629125	122629125	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:122629125G>A	uc003efz.1	-	22	3625	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	SEMA5B_uc011bju.1_Silent_p.I1013I|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Silent_p.I85I	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1107					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTCATCAGGGATCAAGTTAT	0.537000														76			37		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869796	4869796	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:4869796C>T	uc010qyo.2	-	0	643	c.643G>A	c.(643-645)Ggt>Agt	p.G215S		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGTCCAAACCCATGGCTGAA	0.527000														78			51		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156518436	156518436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:156518436G>A	uc001fpf.3	-	16	2005	c.1930C>T	c.(1930-1932)Ccc>Tcc	p.P644S		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	644					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			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)					GCACAGTCGGGAACTACCCCT	0.607000														78			34		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990757	47990757	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:47990757G>A	uc002xur.1	-	1	1506	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	KCNB1_uc002xus.1_Missense_Mutation_p.S447F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	447					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.V446I(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATGTTCATGGATACGATGCT	0.443000														191			88		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71928963	71928964	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:71928963_71928964CC>TT	uc001swl.3	+	3	473_474	c.425_426CC>TT	c.(424-426)tcc>tTT	p.S142F	LGR5_uc001swm.3_Missense_Mutation_p.S142F|LGR5_uc021rar.1_Missense_Mutation_p.S142F|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	142						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCCTTCAATCCCTGTAAGTAT	0.351000														104			25		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573388	20573388	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:20573388C>T	uc002kua.3	+	10	1721	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	RBBP8_uc002ktw.3_Missense_Mutation_p.S533F|RBBP8_uc002kty.3_Missense_Mutation_p.S533F|RBBP8_uc002ktz.3_Missense_Mutation_p.S533F|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Missense_Mutation_p.S533F	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	533					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAGGGCTTTTCCTCAAGCCGT	0.463000								Homologous recombination						67			42		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132096652	132096652	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:132096652G>A	uc003kxr.2	-	8	1366	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	SEPT8_uc003kxs.1_Silent_p.V376V|SEPT8_uc003kxu.2_Silent_p.V376V|SEPT8_uc011cxi.1_Silent_p.V374V|SEPT8_uc003kxv.2_Silent_p.V374V|SEPT8_uc003kxt.2_Silent_p.V316V	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	376					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCCTGGTGGACCCGCTTCA	0.622000														35			76		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61553830	61553830	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:61553830C>T	uc010oos.2	+	2	254	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	NFIA_uc001czy.3_Missense_Mutation_p.H5Y|NFIA_uc001czw.3_Missense_Mutation_p.H13Y|NFIA_uc001czv.3_Missense_Mutation_p.H13Y	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	13					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGATGAATTTCATCCTTTCAT	0.378000														133			69		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976334	20976334	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:20976334C>T	uc010vbe.2	-	52	8872	c.8872G>A	c.(8872-8874)Gaa>Aaa	p.E2958K	DNAH3_uc010vbd.2_Missense_Mutation_p.E393K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2958	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGCAGATTTCAATGTTTTCC	0.522000														160			144		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35706305	35706305	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:35706305G>A	uc003zxt.2	-	39	5603	c.5249C>T	c.(5248-5250)tCc>tTc	p.S1750F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1750	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGGTCTTGGAGGCAGCACC	0.602000														50			181		0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:57485457T>C	uc001smz.3	+	1	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(6)		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						TCTCCCCCCCTGCAGGGGGAG	0.711000														31			6		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47298378	47298378	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:47298378C>T	uc001ner.1	+	4	1250	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	MADD_uc001neq.2_Silent_p.I353I|MADD_uc001nev.1_Silent_p.I353I|MADD_uc001nes.1_Silent_p.I353I|MADD_uc001net.1_Silent_p.I353I|MADD_uc009yln.1_Silent_p.I353I|MADD_uc001neu.1_Silent_p.I353I|MADD_uc001nez.2_Silent_p.I353I|MADD_uc001new.2_Silent_p.I353I|MADD_uc001nex.2_Silent_p.I353I	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	353	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTCCTGTCATCCCGCTGCTAC	0.537000														66			47		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44915951	44915951	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:44915951G>A	uc010skz.1	-	18	2282	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	NELL2_uc001rof.3_Silent_p.F668F|NELL2_uc001rog.2_Silent_p.F669F|NELL2_uc001roh.2_Silent_p.F669F|NELL2_uc009zkd.2_Silent_p.F621F|NELL2_uc010sla.1_Silent_p.F692F	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	669	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACACATAACGAATCCATTCT	0.443000														40			18		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033868	21033868	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:21033868G>A	uc010sil.2	+	9	1476	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E471K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E471K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	471	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTCAGTGGGAACCAGTCTG	0.368000														153			91		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120241108	120241108	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:120241108G>A	uc001txj.2	-	9	1253	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Silent_p.S399S	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	399	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGCACGGAGAGGATGAAACCC	0.517000														89			52		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279504	25279504	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:25279504C>T	uc001isg.1	-	3	647	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	ENKUR_uc001ish.1_Missense_Mutation_p.R99Q	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	161						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTCCTCGTTTCGCTTACATAT	0.358000														40			40		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053853	11053853	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:11053853C>T	uc002rax.3	+	0	1791	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	434						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAACTCAACTCCAGCAGCGGG	0.652000														42			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512945	152512945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:152512945C>T	uc021vrb.1	-	46	6246	c.6217G>A	c.(6217-6219)Ggg>Agg	p.G2073R	NEB_uc002txu.3_Missense_Mutation_p.G2073R|NEB_uc021vrc.1_Missense_Mutation_p.G2073R|NEB_uc010fnx.3_Missense_Mutation_p.G2073R|NEB_uc021vrd.1_Missense_Mutation_p.G2073R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCATTTTCCCCTTCCCTTTT	0.368000														114			115		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47233864	47233864	+	Splice_Site	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:47233864G>T	uc010fbb.3	+	10	1655	c.1287_splice	c.e10+1	p.K429_splice	TTC7A_uc002rvm.3_Splice_Site_p.K395_splice|TTC7A_uc002rvn.1_Splice_Site_p.K310_splice|TTC7A_uc002rvo.3_Splice_Site_p.K429_splice|TTC7A_uc010fbc.3_Splice_Site_p.K75_splice|TTC7A_uc002rvp.3_Splice_Site_p.K310_splice|TTC7A_uc002rvq.3_Splice_Site_p.K169_splice|TTC7A_uc002rvr.3_Splice_Site	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	429							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTGTGGGAAGGTAAGGCCCAG	0.597000														46			8		1.26484e-09	1.28022e-09	1	1	0
SNRK	54861	broad.mit.edu	37	3	43381791	43381791	+	Silent	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:43381791G>T	uc003cms.4	+	4	1076	c.744G>T	c.(742-744)cgG>cgT	p.R248R	SNRK_uc003cmt.4_Silent_p.R248R|SNRK_uc010hik.3_Silent_p.R248R|SNRK_uc011azr.2_Silent_p.R42R	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	248	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TAATCACACGGATGCTACAGA	0.403000														231			115		1.49884e-55	1.55761e-55	1	1	0
TTN	7273	broad.mit.edu	37	2	179584047	179584047	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:179584047C>T	uc021vsy.1	-	79	20563	c.20338G>A	c.(20338-20340)Gag>Aag	p.E6780K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3441K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7707	Ig-like 49.						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)			CTAACAATCTCATTTCCATCC	0.512000														250			97		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46324674	46324674	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:46324674G>A	uc002pdn.3	-	21	3106	c.2861C>T	c.(2860-2862)tCc>tTc	p.S954F	SYMPK_uc002pdo.1_Missense_Mutation_p.S954F|SYMPK_uc002pdp.1_Missense_Mutation_p.S954F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	954					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCACTTCACGGAGTCAATGTT	0.612000														70			14		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172327	47172327	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:47172327C>T	uc001rpi.2	-	10	1349	c.950G>A	c.(949-951)aGt>aAt	p.S317N	SLC38A4_uc001rpj.2_Missense_Mutation_p.S317N	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	317					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.S317G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGTCATCACTATGAGCTTC	0.448000														85			37		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170895116	170895116	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:170895116G>A	uc003fhh.2	-	8	1039	c.694_splice	c.e8+1	p.P232_splice	TNIK_uc003fhi.2_Splice_Site_p.P232_splice|TNIK_uc003fhj.2_Splice_Site_p.P232_splice|TNIK_uc003fhk.2_Splice_Site_p.P232_splice|TNIK_uc003fhl.2_Splice_Site_p.P232_splice|TNIK_uc003fhm.2_Splice_Site_p.P232_splice|TNIK_uc003fhn.2_Splice_Site_p.P232_splice|TNIK_uc003fho.2_Splice_Site_p.P232_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	232	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTACTTACGGGGAGCACCTT	0.493000														16			9		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155157982	155157982	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:155157982C>T	uc002tyt.4	+	6	1140	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	GALNT13_uc002tyr.4_Missense_Mutation_p.R346W|GALNT13_uc010foc.1_Missense_Mutation_p.R165W|GALNT13_uc010fod.3_Missense_Mutation_p.R99W	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	346	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R346L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCATGTTTTTCGGAAGGCAAC	0.403000														359			145		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467305	133467306	+	Missense_Mutation	DNP	GG	AA	AA	rs144163861		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:133467305_133467306GG>AA	uc003epu.2	+	6	1821_1822	c.93_94GG>AA	c.(91-96)tcggag>tcAAag	p.E32K	TF_uc011bls.1_Missense_Mutation_p.E32K|TF_uc011blt.2_Intron|TF_uc003epw.2_Missense_Mutation_p.E32K|TF_uc003epv.2_Missense_Mutation_p.E32K	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	32	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GTGCAGTGTCGGAGCATGAGGC	0.559000														60			15		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417464	150417464	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150417464C>T	uc003whq.3	+	2	512	c.372C>T	c.(370-372)ttC>ttT	p.F124F	GIMAP1-GIMAP5_uc022apw.1_Silent_p.F124F	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGGTCGGTTCACCGCCCAGG	0.627000														61			46		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14974654	14974654	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:14974654G>A	uc003bzc.3	+	19	4479	c.4369G>A	c.(4369-4371)Gaa>Aaa	p.E1457K	FGD5_uc011avk.2_Missense_Mutation_p.E1414K|FGD5_uc003bzd.3_Missense_Mutation_p.E535K	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1457	PH 2.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CGAGGCCATGGAAGATGCGAG	0.428000														23			11		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360875	70360875	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70360875G>A	uc003hek.4	-	0	752	c.705C>T	c.(703-705)ttC>ttT	p.F235F	UGT2B4_uc011cap.2_Silent_p.F99F|UGT2B4_uc003hel.4_Silent_p.F235F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	235					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTCACTGTAGAACTGATCCC	0.328000														42			29		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792290	143792290	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143792290C>T	uc011kty.2	+	0	90	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGGGTTTTTCTTGCTATTCT	0.483000														134			83		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	428638	428638	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:428638T>C	uc002wds.3	-	1	289	c.151A>G	c.(151-153)Aga>Gga	p.R51G	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_5'UTR	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	51					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GCCATGCGTCTAAGGGCAGCC	0.488000														48			38		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11450904	11450904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:11450904C>T	uc021zzo.1	-	18	3980	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	THSD7A_uc021zzn.1_Missense_Mutation_p.G1241E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1243	TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTTTTTATTCCATTTCCACA	0.418000										HNSCC(18;0.044)				111			23		0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15788051	15788051	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:15788051C>T	uc002ddt.1	+	5	776	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	NDE1_uc010uzy.2_Missense_Mutation_p.L245F|NDE1_uc002dds.3_Missense_Mutation_p.L245F|NDE1_uc002ddu.1_Missense_Mutation_p.L182F	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	245	Interaction with CENPF (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GGGGACCCCCCTCACACCTGC	0.572000														34			8		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262400	45262400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:45262400C>T	uc003jok.3	-	7	2321	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	766						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGTGCACTTCATTTTTCGGC	0.657000														19			38		0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683576	4683576	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:4683576G>A	uc002mba.3	-	18	2502	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	LOC100131094_uc021ung.1_Intron	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	719					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTCAGGTCGATGAAGCCAT	0.632000														69			27		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67688755	67688755	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:67688755G>A	uc002etn.3	+	31	3777	c.3657G>A	c.(3655-3657)agG>agA	p.R1219R	RLTPR_uc010vjr.2_Silent_p.R1183R	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1219										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCTGCAGAGGATAGGCGTCA	0.597000														76			54		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17818712	17818712	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:17818712G>A	uc022btm.1	-	0	1419	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	RAI2_uc004cyf.3_Silent_p.S473S|RAI2_uc004cyg.3_Silent_p.S473S|RAI2_uc011miy.2_Silent_p.S423S|RAI2_uc022btl.1_Silent_p.S473S|RAI2_uc004cyh.4_Silent_p.S473S|RAI2_uc010nfa.3_Silent_p.S473S	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	473					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCTGAAGCACGGAGTCTTCTC	0.478000														87			268		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1882108	1882109	+	Splice_Site	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:1882108_1882109GG>AA	uc003wpr.3	+	26	3400	c.3222_splice	c.e26+1	p.E1074_splice	ARHGEF10_uc003wps.3_Splice_Site_p.E1036_splice|ARHGEF10_uc010lre.3_Splice_Site_p.E725_splice	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1099					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGCTGTAGAGGTAAGTCACTT	0.495000														38			19		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	171119	171119	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:171119G>A	uc002fre.2	-	3	508	c.165C>T	c.(163-165)atC>atT	p.I55I	RPH3AL_uc010vpy.2_Silent_p.I55I|RPH3AL_uc021tmx.1_Silent_p.I55I|RPH3AL_uc002frf.2_Silent_p.I55I|RPH3AL_uc010cjl.2_Silent_p.I55I	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	55	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TGACCTGCAGGATGGCCTCCA	0.677000														22			35		0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49065606	49065606	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:49065606G>A	uc001rrz.2	-	3	1278	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	KANSL2_uc001rrw.2_Missense_Mutation_p.R34C|KANSL2_uc001rrx.2_Missense_Mutation_p.R229C|KANSL2_uc001rry.2_Non-coding_Transcript	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	229																	TCCACTTTGCGATTATGTAAG	0.403000														257			118		0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384781	12384781	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:12384781G>A	uc010xmj.2	-	4	638	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Missense_Mutation_p.P97S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ACTCTGGCGGGAGTGTTCTTG	0.418000														162			54		0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626118	39626118	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:39626118C>T	uc003axf.3	-	4	1561	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	PDGFB_uc003axe.3_Missense_Mutation_p.R176Q	NM_002608	NP_002599	P01127	PDGFB_HUMAN	Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA.	191					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	CCCCGGGCTTCGGGTCACAGG	0.627000			T	COL1A1	DFSP									64			43		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406529	105406529	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:105406529G>A	uc010axc.1	-	6	15379	c.15259C>T	c.(15259-15261)Ctc>Ttc	p.L5087F	AHNAK2_uc021sen.1_Missense_Mutation_p.L484F|AHNAK2_uc021seo.1_Missense_Mutation_p.L85F|AHNAK2_uc001ypx.2_Missense_Mutation_p.L4987F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5087						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGTGGAGGTTCACACCC	0.572000														106			68		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625972	154625972	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:154625972A>C	uc003inq.3	+	2	2132	c.1913A>C	c.(1912-1914)aAc>aCc	p.N638T	TLR2_uc003inr.3_Missense_Mutation_p.N638T|TLR2_uc003ins.3_Missense_Mutation_p.N638T|TLR2_uc021xtl.1_Missense_Mutation_p.N638T	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	638					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCCAGCAGGAACATCTGCTAT	0.537000														36			21		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47739512	47739512	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:47739512G>A	uc002rvz.3	+	15	2773	c.2705G>A	c.(2704-2706)gGa>gAa	p.G902E		NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	0					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTTCGTGGGGGAAAGAGATCT	0.483000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					18			12		0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396347	54396347	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:54396347G>A	uc001seq.3	+	1	768	c.672G>A	c.(670-672)gaG>gaA	p.E224E		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	224					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GTCGGTATGAGGTGGCCCGGG	0.488000														124			24		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117351971	117351971	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:117351971G>A	uc001prh.1	-	12	2756	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	858	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGTCCCCACGGTCAGCGGGCT	0.592000														31			35		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030997	33030997	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:33030997G>A	uc001rlj.4	-	2	932	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	PKP2_uc001rlk.4_Missense_Mutation_p.P273S|PKP2_uc010skj.2_Missense_Mutation_p.P273S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	273					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGCACCAGCGGCCTGACCTGC	0.662000														53			30		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67039854	67039854	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:67039854G>A	uc002jhu.3	-	5	719	c.576C>T	c.(574-576)atC>atT	p.I192I	ABCA9_uc010dez.3_Silent_p.I192I|ABCA9_uc002jhv.3_Silent_p.I192I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	192					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATTTGTTGCGATCTGAAGAA	0.338000														49			33		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177615	7177615	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:7177615G>A	uc001qsj.3	+	14	2446	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	C1S_uc001qsk.3_Missense_Mutation_p.R576K|C1S_uc001qsl.3_Missense_Mutation_p.R576K|C1S_uc009zfr.3_Missense_Mutation_p.R409K|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	576	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ACAGAGAAGAGAGATCGTGCT	0.552000														46			31		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203140228	203140228	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:203140228G>A	uc001gzh.1	-	5	953	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	298	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		TGTAGCCCAGGAGCTCTGTGT	0.612000														113			53		0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44425994	44425994	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:44425994T>C	uc001ckx.3	+	11	2897	c.2102T>C	c.(2101-2103)gTt>gCt	p.V701A		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	701					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	p.Q700K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GATGCCCAGGTTGTGGAGGTG	0.547000														137			90		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809020	48809020	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:48809020C>T	uc002rwp.2	+	1	1362	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	STON1-GTF2A1L_uc021vhf.1_Silent_p.S416S|STON1-GTF2A1L_uc002rwo.4_Silent_p.S416S|STON1-GTF2A1L_uc010fbm.3_Silent_p.S416S|STON1-GTF2A1L_uc010yol.2_Silent_p.S416S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	416					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGAAATTTCCTTGGAAATTG	0.393000														199			37		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408669	39408669	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:39408669G>C	uc003gua.3	+	0	197	c.100G>C	c.(100-102)Gga>Cga	p.G34R	KLB_uc011byj.2_Missense_Mutation_p.G34R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	34					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTCCAACGGGGGATTGCAAAG	0.438000														80			23		0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66555725	66555725	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:66555725C>G	uc021qmd.1	+	4	625	c.618C>G	c.(616-618)ttC>ttG	p.F206L	C11orf80_uc010rpk.2_Missense_Mutation_p.F40L	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	51										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TAACACCCTTCCAGATGATTT	0.388000														83			14		0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18591776	18591776	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:18591776G>A	uc001mot.3	-	3	422	c.342C>T	c.(340-342)ctC>ctT	p.L114L	UEVLD_uc001mou.3_Silent_p.L114L|UEVLD_uc010rde.2_Intron|UEVLD_uc010rdf.2_Silent_p.L92L|UEVLD_uc010rdg.2_Intron|UEVLD_uc001mov.3_Silent_p.L92L|UEVLD_uc010rdh.2_Silent_p.L114L	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	114	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCAGTTTTGGAGATAGGGCA	0.363000														65			28		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671898	144671898	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:144671898G>A	uc003yyq.2	-	0	733	c.504C>T	c.(502-504)ttC>ttT	p.F168F	EEF1D_uc003yyp.2_Silent_p.F118F|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.F118F|EEF1D_uc003yyr.3_Silent_p.F118F|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	18					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGCCTGGTCGAAAAGTGACT	0.662000														12			10		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485313	152485313	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:152485313C>T	uc021zhb.1	-	128	23998	c.23775G>A	c.(23773-23775)aaG>aaA	p.K7925K	SYNE1_uc003qos.4_Silent_p.K2449K|SYNE1_uc003qot.4_Silent_p.K7854K|SYNE1_uc003qou.4_Silent_p.K7925K|SYNE1_uc011eez.2_Silent_p.K127K|SYNE1_uc003qoq.4_Silent_p.K127K|SYNE1_uc003qor.4_Silent_p.K825K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7925					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCATTAAGCTTTCTCTGTA	0.478000										HNSCC(10;0.0054)				141			29		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196891484	196891484	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:196891484C>T	uc002utj.4	-	7	768	c.667_splice	c.e7+1	p.V223_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	223	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAATTTACCTATGGATTTC	0.284000														19			30		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002745	132002745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:132002745C>T	uc003ytd.4	-	1	1260	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	ADCY8_uc010mds.3_Missense_Mutation_p.G335E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	335					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)			GATGAAGATTCCAGCTGTGTT	0.507000										HNSCC(32;0.087)				108			81		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421299	105421299	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:105421299G>A	uc003dwc.3	-	11	1920	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	CBLB_uc011bhi.2_Missense_Mutation_p.S555F|CBLB_uc003dwd.2_Missense_Mutation_p.S533F|CBLB_uc003dwe.2_Missense_Mutation_p.S533F	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	533	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CATGCAAGGAGAAGACTaaag	0.403000			Mis S		AML									15			10		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48818845	48818845	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:48818845G>A	uc002rwp.2	+	2	2098	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E662K|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E662K|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E662K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E662K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	662					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCAGACCAAGAAATTCCCTC	0.438000														267			89		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103113312	103113312	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:103113312C>T	uc022ajr.1	-	64	10490	c.10330G>A	c.(10330-10332)Ggg>Agg	p.G3444R	RELN_uc022ajq.1_3'UTR|RELN_uc010liz.3_Missense_Mutation_p.G3442R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3444	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTCTGAGCCCATGTTGTCGT	0.378000														151			53		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182836128	182836128	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:182836128C>T	uc001gpr.3	+	13	1682	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	DHX9_uc001gps.3_Nonsense_Mutation_p.R289*	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	503	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCAGGCATTCGAGGAATCAG	0.308000														154			102		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254660	30254660	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:30254660C>T	uc022bug.1	+	0	619	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	MAGEB3_uc004dca.2_Missense_Mutation_p.L207F	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	207	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCTGCTGAATCTCCTGGGCGT	0.478000														16			33		0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116407	15116408	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:15116407_15116408CC>TT	uc003bzm.1	-	13	1850_1851	c.1236_1237GG>AA	c.(1234-1239)gaggaa>gaAAaa	p.E413K	ZFYVE20_uc010hek.1_Missense_Mutation_p.E413K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	413	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTCTGCCTTTCCTCAAGCCTTC	0.634000														56			32		0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18542187	18542187	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:18542187C>T	uc002niy.3	+	5	707	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	SSBP4_uc010ebp.3_Missense_Mutation_p.P132S|SSBP4_uc002niz.3_Intron	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	132	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCAGCCGTCCCCCCACAACCC	0.701000														4			6		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800332	48800332	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:48800332C>T	uc002pir.2	-	13	2597	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	CCDC114_uc002piq.2_Silent_p.S447S|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	638	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GGCCTCCGCTCGAATCAGACG	0.672000														63			55		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982427	36982427	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:36982427C>G	uc010jwp.1	+	6	1000	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.L83V	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	277	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTCAGAAGCCCTGGACATGAT	0.602000														57			30		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046418	69046418	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:69046418C>T	uc010fdg.3	+	8	1586	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	ARHGAP25_uc010yql.2_Silent_p.L349L|ARHGAP25_uc002sev.3_Silent_p.L382L|ARHGAP25_uc002sew.3_Silent_p.L381L|ARHGAP25_uc002sex.3_Silent_p.L382L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	388					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CTGAAGACCTCCGAATTTCTA	0.527000														138			30		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3116410	3116410	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:3116410G>A	uc002klp.3	-	20	3556	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	MYOM1_uc002klq.3_Silent_p.F978F	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1074	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAAGTCCACGAAGTAACCAG	0.547000														25			10		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50290733	50290733	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:50290733G>A	uc002xwg.1	-	10	996	c.996C>T	c.(994-996)atC>atT	p.I332I	ATP9A_uc010gih.1_Silent_p.I196I|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	332					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAGCGGATGATCTGCAGGT	0.522000														92			41		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449594	85449594	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:85449594G>A	uc001tac.3	+	7	1134	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	LRRIQ1_uc021rbo.1_Silent_p.E219E|LRRIQ1_uc001taa.1_Silent_p.E316E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	341	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		gattagaggaggaacaaagga	0.328000														24			10		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299046	139299046	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:139299046G>A	uc003vvf.4	-	7	2247	c.1976C>T	c.(1975-1977)cCc>cTc	p.P659L	HIPK2_uc003vvd.4_Missense_Mutation_p.P632L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	659	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAGCCGGGGGGACACACGAT	0.612000														27			11		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81596952	81596952	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:81596952G>A	uc003uhr.1	-	29	2679	c.2423C>T	c.(2422-2424)tCc>tTc	p.S808F	CACNA2D1_uc011kgy.1_Missense_Mutation_p.S20F	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	820						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CTCTATCCAGGAATTTACATC	0.244000														31			15		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120362534	120362534	+	Missense_Mutation	SNP	G	A	A	rs141477875		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:120362534G>A	uc002tmb.3	+	10	1249	c.137G>A	c.(136-138)gGa>gAa	p.G46E	PCDP1_uc010yyq.2_Missense_Mutation_p.G176E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	332						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGAACCAGGAAAATTGAAG	0.383000														189			68		0	0	1	0	0
FAM104A	84923	broad.mit.edu	37	17	71228295	71228295	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:71228295G>A	uc002jjj.4	-	0	239	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	FAM104A_uc002jji.4_Missense_Mutation_p.P51S|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.3_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.4_5'Flank|C17orf80_uc002jjl.4_5'Flank	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	51										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAAGAGAGGGAACAGAGGGG	0.701000														17			16		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2763042	2763042	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:2763042C>T	uc009zdu.1	+	34	4573	c.4260C>T	c.(4258-4260)ttC>ttT	p.F1420F	CACNA1C_uc001qkc.2_Silent_p.F1372F|CACNA1C_uc001qjz.2_Silent_p.F1372F|CACNA1C_uc001qkd.2_Silent_p.F1372F|CACNA1C_uc001qke.2_Silent_p.F1361F|CACNA1C_uc001qkf.2_Silent_p.F1361F|CACNA1C_uc009zdw.1_Silent_p.F1394F|CACNA1C_uc001qkg.2_Silent_p.F1359F|CACNA1C_uc001qkh.2_Silent_p.F1361F|CACNA1C_uc001qkl.2_Silent_p.F1420F|CACNA1C_uc001qkj.2_Silent_p.F1372F|CACNA1C_uc001qkk.2_Silent_p.F1372F|CACNA1C_uc001qkn.2_Silent_p.F1372F|CACNA1C_uc001qkm.2_Silent_p.F1361F|CACNA1C_uc001qko.2_Silent_p.F1392F|CACNA1C_uc001qkp.2_Silent_p.F1372F|CACNA1C_uc001qkq.2_Silent_p.F1400F|CACNA1C_uc001qku.2_Silent_p.F1372F|CACNA1C_uc001qkr.2_Silent_p.F1389F|CACNA1C_uc001qks.2_Silent_p.F1372F|CACNA1C_uc001qkt.2_Silent_p.F1372F|CACNA1C_uc009zdv.1_Silent_p.F1369F|CACNA1C_uc001qkb.2_Silent_p.F1372F|CACNA1C_uc001qki.1_Silent_p.F1108F|CACNA1C_uc010sea.1_Silent_p.F63F	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1420					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTGTTCTTCATCTACGCGG	0.632000														34			27		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1024858	1024858	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:1024858T>G	uc001lsw.2	-	23	3262	c.3211A>C	c.(3211-3213)Acc>Ccc	p.T1071P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1071	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCAGGTGGCAAAGGTC	0.687000														31			6		0	0	1	0	0
C17orf39	79018	broad.mit.edu	37	17	17943050	17943050	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:17943050C>T	uc002gsg.1	+	0	440	c.272C>T	c.(271-273)cCc>cTc	p.P91L	ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	91	Pro-rich.									large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					ACCGAGTGTCCCCCGCCGGCC	0.776000														1			2		0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43749740	43749740	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:43749740A>G	uc003owh.3	+	6	1631	c.1133A>G	c.(1132-1134)gAt>gGt	p.D378G	VEGFA_uc003owd.3_Missense_Mutation_p.D337G|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Missense_Mutation_p.D361G|VEGFA_uc003owg.3_Missense_Mutation_p.D355G|VEGFA_uc003owe.3_Missense_Mutation_p.D337G|VEGFA_uc021yzu.1_Intron|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Missense_Mutation_p.D337G|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	198					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TTTGTACAAGATCCGCAGACG	0.493000														50			33		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6533032	6533032	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:6533032C>T	uc003zkc.3	-	24	3241	c.3048G>A	c.(3046-3048)aaG>aaA	p.K1016K		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	1016					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGACGCCCTCTTTTGTTCAG	0.463000														31			22		0	0	1	0	0
CCRL1	51554	broad.mit.edu	37	3	132320179	132320179	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:132320179A>T	uc003eow.3	+	1	1021	c.938A>T	c.(937-939)tAc>tTc	p.Y313F	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.Y313F	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	313					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						TTCAAAAACTACGTTATGAAA	0.458000														117			41		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	20998548	20998548	+	Missense_Mutation	SNP	G	A	A	rs141369367	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:20998548G>A	uc001bdr.4	-	11	2723	c.2605C>T	c.(2605-2607)Cgc>Tgc	p.R869C	KIF17_uc001bdp.4_Missense_Mutation_p.R147C|KIF17_uc009vpx.3_Missense_Mutation_p.R239C|KIF17_uc001bds.4_Missense_Mutation_p.R869C	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	869					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGTCCCTGCGAATCAGGGGC	0.557000														50			41		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61298806	61298806	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:61298806C>T	uc002saw.4	+	3	519	c.216C>T	c.(214-216)tcC>tcT	p.S72S	KIAA1841_uc002sax.4_5'UTR|KIAA1841_uc002say.3_Silent_p.S72S|KIAA1841_uc002sav.4_Silent_p.S72S	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	72								p.S72P(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGTATAATTCCCTAATGGCTG	0.398000														105			47		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16664808	16664808	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:16664808C>T	uc002gqk.1	+	12	3518	c.3442C>T	c.(3442-3444)Ctt>Ttt	p.L1148F	CCDC144A_uc002gql.1_Missense_Mutation_p.L664F|CCDC144A_uc010cpj.1_Non-coding_Transcript	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	1148																	GAATGAAGTTCTTCAACTTCA	0.353000														8			11		0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020287	52020287	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52020287A>G	uc003dcp.3	+	5	700	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	ABHD14B_uc003dcn.3_5'Flank|ACY1_uc011bea.2_Missense_Mutation_p.R216G|ACY1_uc011beb.2_Missense_Mutation_p.R126G|ACY1_uc003dcq.3_Missense_Mutation_p.R126G|ACY1_uc021wzb.1_Missense_Mutation_p.R91G|ACY1_uc021wzc.1_Intron|ACY1_uc021wzd.1_Missense_Mutation_p.R126G	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	126					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GGAAGCTGTGAGGAGGCTGAA	0.637000														37			23		0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472298	136472298	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:136472298G>A	uc003qgp.3	+	6	686	c.383_splice	c.e6-1	p.G128_splice	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Splice_Site_p.G180_splice	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	128					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCCTGCAGGAAACAGCCTG	0.373000														71			18		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27423405	27423405	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:27423405T>G	uc002ylz.3	-	4	773	c.573A>C	c.(571-573)gaA>gaC	p.E191D	APP_uc010glk.3_Missense_Mutation_p.E186D|APP_uc002yma.3_Missense_Mutation_p.E191D|APP_uc011ach.2_Missense_Mutation_p.E135D|APP_uc021whz.1_Missense_Mutation_p.E191D|APP_uc021wia.1_Missense_Mutation_p.E191D|APP_uc002ymb.3_Missense_Mutation_p.E191D|APP_uc010glj.3_Missense_Mutation_p.E135D|APP_uc021wib.1_Missense_Mutation_p.E191D|APP_uc011aci.2_Missense_Mutation_p.E156D|APP_uc011acj.2_Missense_Mutation_p.E191D	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	191					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGTCACTTTCTTCAGCCAGTG	0.542000														56			12		0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832403	72832403	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:72832403C>T	uc002jls.4	+	9	1230	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.F356F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	356						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGCGCTTTTTCCTGGGCCTCT	0.617000														179			61		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186670881	186670881	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:186670881G>A	uc002upl.3	+	16	17115	c.17115G>A	c.(17113-17115)agG>agA	p.R5705R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACAATGCAAGGGAAAGCTCAT	0.328000														170			49		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963502	148963502	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:148963502C>T	uc011kuo.2	+	1	264	c.101C>T	c.(100-102)tCg>tTg	p.S34L	AF035281_uc003wfr.4_Non-coding_Transcript	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	34					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GAGAAGAACTCGTACCTCTAC	0.567000														25			22		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10708096	10708096	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:10708096G>A	uc001aro.3	-	15	3579	c.3259C>T	c.(3259-3261)Cct>Tct	p.P1087S	CASZ1_uc001arp.1_Missense_Mutation_p.P1087S	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1087	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGACCGGAGGGGACGAGGGG	0.692000														13			10		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9417680	9417680	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:9417680C>T	uc021wam.1	+	25	2624	c.2609C>T	c.(2608-2610)tCc>tTc	p.S870F	PLCB4_uc010gbw.1_Missense_Mutation_p.S870F|PLCB4_uc010gbx.3_Missense_Mutation_p.S882F|PLCB4_uc021wal.1_Missense_Mutation_p.S870F|PLCB4_uc002wnh.3_Missense_Mutation_p.S717F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	870					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGTGACACTTCCAAAAATGAC	0.473000														26			18		0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764522	33764522	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:33764522A>T	uc002xbt.3	+	3	807	c.623A>T	c.(622-624)tAc>tTc	p.Y208F	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	208					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCCGCTCCTACACTTCGCTG	0.537000														21			8		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257917	16257917	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:16257917C>G	uc001axk.1	+	10	5386	c.5182C>G	c.(5182-5184)Ccg>Gcg	p.P1728A	SPEN_uc010obp.1_Missense_Mutation_p.P1687A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1728					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.Q1727*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGACCAGCCGCCTTATCT	0.572000														223			108		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36857	36857	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrGL000241.1:36857G>A	uc011mgv.2	-	0		c.19C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CACCAGGGCGGGGAGGATCAG	0.577000														10			3		0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44435929	44435929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:44435929G>A	uc001ckz.3	+	0	277	c.82G>A	c.(82-84)Gac>Aac	p.D28N	DPH2_uc001cla.3_Missense_Mutation_p.D28N|DPH2_uc010okk.2_5'UTR|DPH2_uc001clb.3_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	28					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TCCTCTTCCGGACCTGGACGG	0.627000														79			36		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109285499	109285499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:109285499G>A	uc003pss.4	+	15	2443	c.2269G>A	c.(2269-2271)Gga>Aga	p.G757R	ARMC2_uc011eao.2_Missense_Mutation_p.G592R	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	757							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTTGAAAGAAGGAGGTGGCAT	0.463000														19			14		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432456	104432456	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:104432456C>T	uc004bbp.2	-	2	2839	c.2238G>A	c.(2236-2238)atG>atA	p.M746I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M746I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	746					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCCAAAGGTTCATTAGAAACC	0.438000														47			149		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156437412	156437412	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:156437412G>A	uc003wmo.3	+	2	465	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.E79K|RNF32_uc003wmq.3_Missense_Mutation_p.E79K|RNF32_uc003wmr.3_Missense_Mutation_p.E79K|RNF32_uc003wms.3_Missense_Mutation_p.E79K|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.E79K	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	79						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTCAGAAAAAGAATATGTTCT	0.358000														282			22		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483117	158483117	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:158483117G>A	uc003qqx.2	+	7	1154	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.E350K|SYNJ2_uc003qqy.2_Missense_Mutation_p.E113K|SYNJ2_uc011efn.1_Missense_Mutation_p.E278K|SYNJ2_uc010kjo.1_Missense_Mutation_p.E299K|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	350	SAC.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGAGAAATTGGAGACCCTCTT	0.527000														189			54		0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630862	12630862	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:12630862C>T	uc001rao.2	-	6	1666	c.903G>A	c.(901-903)caG>caA	p.Q301Q	DUSP16_uc001ran.2_Silent_p.Q153Q	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	301					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGCTCCAGTCTGGTTCTTAA	0.468000														119			74		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862691	154862691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:154862691G>A	uc003wlu.1	+	0	146	c.82G>A	c.(82-84)Gac>Aac	p.D28N	LOC100128264_uc003wlt.2_Intron|LOC100128264_uc011kvt.1_Intron	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	28						integral to plasma membrane	serotonin receptor activity	p.D28H(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGGCAAAGACGACCTGCGCCC	0.607000														143			108		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:9520219C>T	uc002wnl.2	-	10	2595	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PAK7_uc002wnk.2_Missense_Mutation_p.E684K|PAK7_uc002wnj.2_Missense_Mutation_p.E684K|PAK7_uc010gby.1_Missense_Mutation_p.E597K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507000														179			79		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89431734	89431734	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:89431734G>A	uc001pda.3	+	13	1822	c.1296G>A	c.(1294-1296)caG>caA	p.Q432Q		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	432					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TCACAGTGCAGGCAGCTGCAG	0.418000														93			60		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145528591	145528591	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:145528591C>T	uc001eoa.3	+	4	464	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	ITGA10_uc001enz.1_3'UTR|ITGA10_uc010oyv.2_Intron|ITGA10_uc009wiw.3_Intron|ITGA10_uc010oyw.2_Missense_Mutation_p.R75C	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	130					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.R130C(2)|p.R130H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTCTGGTCTCGTGCTTGTGG	0.592000														70			50		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103573348	103573348	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:103573348G>A	uc001ktv.2	-	1	658	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MGEA5_uc010qqe.1_Missense_Mutation_p.P72L|MGEA5_uc009xws.2_Missense_Mutation_p.P72L|MGEA5_uc001ktw.2_Missense_Mutation_p.P72L|MGEA5_uc009xwt.2_5'UTR|MGEA5_uc010qqf.1_Non-coding_Transcript	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	72					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CATAACCCAAGGTCTTCCATA	0.289000														48			57		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638859	6638859	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6638859G>A	uc001mel.1	-	3	439	c.378C>T	c.(376-378)atC>atT	p.I126I	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Silent_p.I126I	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	126					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTCTCACCGGATGCTCAGCC	0.567000														96			60		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173655	126173655	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:126173655C>T	uc003vlr.2	-	7	2092	c.1781G>A	c.(1780-1782)gGa>gAa	p.G594E	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G594E|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	594					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCGATGATTCCCAATATTGC	0.512000										HNSCC(24;0.065)				82			43		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922601	24922601	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:24922601C>T	uc001ywo.3	+	0	2061	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	529	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCTTTCCTTCCTGACTCTTC	0.532000														91			125		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151475094	151475094	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:151475094T>G	uc003ezc.3	+	4	1038	c.918T>G	c.(916-918)agT>agG	p.S306R	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S93R	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	306						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAGGACTTAGTTATTCATTGC	0.368000														242			49		0	0	1	0	0
ULBP2	80328	broad.mit.edu	37	6	150266617	150266617	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:150266617C>T	uc003qno.3	+	1	331	c.258C>T	c.(256-258)gcC>gcT	p.A86A	ULBP2_uc011eeh.1_Silent_p.A86A|ULBP2_uc010kij.3_Silent_p.A86A	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	86	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCACAACGGCCTGGAAAGCAC	0.483000														196			85		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148603912	148603912	+	Silent	SNP	A	T	T	rs139521475	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:148603912A>T	uc003ewm.3	+	9	1066	c.1014A>T	c.(1012-1014)ctA>ctT	p.L338L		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	338					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTGATGTTCTATCAACTCGAT	0.348000														55			31		0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21215482	21215482	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:21215482A>G	uc001unh.3	+	19	2050	c.1654A>G	c.(1654-1656)Aaa>Gaa	p.K552E	IFT88_uc001uni.3_Missense_Mutation_p.K543E|IFT88_uc001unj.3_Missense_Mutation_p.K542E|IFT88_uc010tcq.2_Missense_Mutation_p.K523E|IFT88_uc001unk.3_Missense_Mutation_p.K298E	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	552					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTGTTTCCTGAAACTTCACGC	0.338000														19			28		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532441	92532441	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:92532441C>A	uc001pdj.4	+	8	6279	c.6262C>A	c.(6262-6264)Cca>Aca	p.P2088T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2088	Cadherin 19.				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)				TGTGGGCCTCCCATACTATGC	0.493000										TCGA Ovarian(4;0.039)				51			15		6.72482e-11	6.84219e-11	1	1	0
OR6C75	390323	broad.mit.edu	37	12	55759190	55759190	+	Missense_Mutation	SNP	T	C	C	rs141133753	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:55759190T>C	uc010spk.2	+	0	296	c.296T>C	c.(295-297)cTa>cCa	p.L99P		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GTGGCTCAGCTATTTTTTTTC	0.438000														133			82		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345173	100345173	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:100345173G>A	uc003uwj.3	+	9	1097	c.932_splice	c.e9-1	p.G311_splice	ZAN_uc003uwk.3_Splice_Site_p.G311_splice|ZAN_uc003uwl.3_Splice_Site|ZAN_uc010lhh.3_Splice_Site|ZAN_uc010lhi.3_Splice_Site	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	311	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCACTGCAGGGAGTATCCGG	0.522000														150			12		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931118	150931118	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:150931118A>C	uc003eyr.1	-	2	1465	c.987T>G	c.(985-987)aaT>aaG	p.N329K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.N329K|P2RY14_uc021xfz.1_Missense_Mutation_p.N329K	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	329						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGTGTTGTATTTCCTCTTT	0.368000														147			74		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149983316	149983316	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:149983316G>A	uc003qmu.1	-	7	3490	c.2942C>T	c.(2941-2943)gCt>gTt	p.A981V	LATS1_uc010kif.1_Missense_Mutation_p.A876V	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	981	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGATCAGAAGCTTCAGGACT	0.358000														98			73		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115540378	115540378	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:115540378C>T	uc009xyc.2	+	12	1630	c.939C>T	c.(937-939)atC>atT	p.I313I	C10orf81_uc001lar.2_3'UTR|C10orf81_uc001las.2_Silent_p.I313I|C10orf81_uc001lau.2_Silent_p.I229I|MIR4483_uc021pys.1_5'Flank|C10orf81_uc001lav.3_5'Flank	NM_001193434	NP_001180364	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 2, mRNA.	409								p.I313I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AGCTTACCATCGGCAGGATCC	0.408000														32			28		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651076	6651076	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:6651076G>A	uc001mem.1	-	10	5263	c.4862C>T	c.(4861-4863)gCc>gTc	p.A1621V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1621	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTCTGAGGCCACCACTGT	0.662000														69			13		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23907707	23907707	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:23907707G>A	uc001uon.2	-	9	10897	c.10308C>T	c.(10306-10308)atC>atT	p.I3436I	SACS_uc001uoo.2_Silent_p.I3289I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3436					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGCTGAAGGGATACTTTTTG	0.358000														125			12		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138646971	138646971	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:138646971C>T	uc011mdq.2	+	5	570	c.496C>T	c.(496-498)Cct>Tct	p.P166S	KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Missense_Mutation_p.P118S|KCNT1_uc004cgo.1_5'UTR	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	166						membrane	binding|calcium-activated potassium channel activity	p.A165A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCCAGGGCTCCTATTCTGTG	0.617000														15			25		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156914196	156914196	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:156914196G>A	uc001fqo.3	-	29	3941	c.2901C>T	c.(2899-2901)atC>atT	p.I967I	ARHGEF11_uc010phu.2_Silent_p.I383I|ARHGEF11_uc001fqn.3_Silent_p.I1007I	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	967	PH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCCCTCATGGATCATTTTTC	0.488000														74			13		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261053	21261053	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21261053G>A	uc010bwp.1	+	2	208	c.165_splice	c.e2-1	p.G55_splice	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	55										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTCTTCTAGAGGGGACCCTGA	0.438000														40			17		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61920061	61920061	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:61920061C>T	uc001xfn.3	+	6	1255	c.950C>T	c.(949-951)tCt>tTt	p.S317F	PRKCH_uc010tsa.2_Missense_Mutation_p.S156F	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	317					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GGAAATATTTCTCCAACCTCG	0.483000														65			29		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953239	140953239	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:140953239G>A	uc003llb.4	-	15	2319	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	DIAPH1_uc003llc.4_Silent_p.I717I|DIAPH1_uc021yep.1_Silent_p.I726I|DIAPH1_uc021yeq.1_Silent_p.I717I|DIAPH1_uc010jgc.1_Silent_p.I165I	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	726	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGGAGGGATTCCAGGAC	0.617000														10			19		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38024303	38024303	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:38024303G>T	uc010efm.3	+	6	678	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZNF793_uc010xts.2_Missense_Mutation_p.W79L	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCCACTGTTGGGGTAAGTGT	0.498000														48			11		3.03607e-14	3.11625e-14	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33338105	33338105	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:33338105G>A	uc002xav.3	-	9	4464	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	NCOA6_uc002xaw.3_Silent_p.S631S|NCOA6_uc021wcd.1_Silent_p.S631S|NCOA6_uc021wce.1_Silent_p.S631S|NCOA6_uc021wcf.1_Silent_p.S631S	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	631	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S631F(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGGCCCTGGGAGGGCACGA	0.577000														100			60		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788241	26788241	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:26788241A>T	uc001uqo.3	-	4	2123	c.1778T>A	c.(1777-1779)tTa>tAa	p.L593*	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Nonsense_Mutation_p.L593*|RNF6_uc001uqq.3_Nonsense_Mutation_p.L593*|RNF6_uc010tdk.2_Nonsense_Mutation_p.L237*	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	593					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TTCATTTAGTAAAAAAAAGTG	0.403000														89			97		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21145749	21145749	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21145749C>T	uc010vbe.2	-	6	913	c.913G>A	c.(913-915)Gag>Aag	p.E305K	DNAH3_uc002die.2_Missense_Mutation_p.E276K	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	305	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTTTTCTCTCCATTGGGTCC	0.488000														127			50		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8126030	8126030	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:8126030C>T	uc003srk.3	+	7	2065	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	502										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCCGGGTTTCCTTTACGTCTC	0.567000														421			328		0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337269	6337269	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:6337269G>A	uc003jdn.1	-	0	137	c.40C>T	c.(40-42)Cgt>Tgt	p.R14C						Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA.																		TCACCATCACGATACCATTGC	0.502000														44			67		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368623	101368623	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:101368623G>A	uc010svm.1	+	7	1130	c.558_splice	c.e7-1	p.R186_splice	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Splice_Site_p.R151_splice|ANO4_uc001thx.2_Splice_Site_p.R186_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	186						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTTCTTCCAGGAGAAAAATCT	0.468000										HNSCC(74;0.22)				125			51		0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2024798	2024798	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:2024798C>T	uc002cnu.1	+	5	516	c.414C>T	c.(412-414)atC>atT	p.I138I	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.I24I|TBL3_uc010bsc.1_Silent_p.I24I|TBL3_uc010uvt.1_5'Flank|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	138					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCTGGGACATCGTGCGGCACT	0.667000														43			40		0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101342518	101342518	+	Silent	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:101342518C>A	uc003hvr.3	-	7	764	c.585G>T	c.(583-585)gtG>gtT	p.V195V	EMCN_uc011cel.2_Silent_p.V182V|EMCN_uc011cem.2_Intron	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	195						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AAGCAATAACCACCGGCAAAA	0.393000														71			19		5.03518e-11	5.13201e-11	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131222231	131222231	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:131222231G>C	uc003qch.2	-	6	1201	c.1019C>G	c.(1018-1020)aCc>aGc	p.T340S	EPB41L2_uc010kfl.2_Missense_Mutation_p.T340S|EPB41L2_uc003qcg.1_Missense_Mutation_p.T340S|EPB41L2_uc003qci.3_Missense_Mutation_p.T340S|EPB41L2_uc011eby.2_Missense_Mutation_p.T340S|EPB41L2_uc010kfk.2_Missense_Mutation_p.T340S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	340	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGCCTGCAGGGTGTAGGATCC	0.547000														140			28		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67264265	67264265	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:67264265C>T	uc002esl.3	-	18	3115	c.3003G>A	c.(3001-3003)caG>caA	p.Q1001Q	FHOD1_uc010ced.3_Silent_p.Q808Q	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1001	FH2.|Poly-Gln.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGTATGTGGCCTGCTTCTGCT	0.587000														53			23		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:132290506_132290507CC>TT	uc002tta.3	+	5	998_999	c.946_947CC>TT	c.(946-948)ccc>TTc	p.P316F	CCDC74A_uc002ttb.3_Missense_Mutation_p.P250F|CCDC74A_uc021vpq.1_Missense_Mutation_p.P252S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P313F	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGTG	0.649000														86			32		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746126	15746126	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:15746126G>A	uc002yjt.3	-	4	1297	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	HSPA13_uc011abx.2_Missense_Mutation_p.R202C	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	410						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CGAGGAATACGAGTGGAGCCC	0.463000														74			35		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31451712	31451712	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:31451712G>A	uc003jhg.2	-	19	2969	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	DROSHA_uc003jhh.2_Silent_p.I833I|DROSHA_uc003jhi.2_Silent_p.I833I	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	870	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGTGGTAGCGGATATGATGGG	0.333000														14			17		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440012	150440012	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150440012A>T	uc022apw.1	+	5	1537	c.1397A>T	c.(1396-1398)gAg>gTg	p.E466V	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.E262V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GAGCTGAGGGAGAACGAGAGT	0.488000														125			16		0	0	1	0	0
ASCL4	121549	broad.mit.edu	37	12	108169092	108169092	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:108169092A>T	uc001tmr.3	+	0	931	c.100A>T	c.(100-102)Agg>Tgg	p.R34W		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	33					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						ACTCCCGCGGAGGGACCCCCT	0.726000														49			35		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635941	156635941	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:156635941C>T	uc003lwo.1	+	1	262	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	60	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R59Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCGAATCAAATGTGTTG	0.458000			T	SYK	peripheral T-cell lymphoma									23			37		0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259790	71259790	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:71259790G>A	uc001oqs.1	+	0	325	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	29					epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGGCTGCAGGGGCTGTGGCC	0.647000														181			34		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58139325	58139325	+	Silent	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:58139325G>T	uc003djj.2	+	38	6756	c.6591G>T	c.(6589-6591)cgG>cgT	p.R2197R	FLNB_uc010hne.2_Silent_p.R2228R|FLNB_uc003djk.2_Silent_p.R2186R|FLNB_uc010hnf.2_Silent_p.R2173R|FLNB_uc003djl.2_Silent_p.R2017R|FLNB_uc003djm.2_Silent_p.R2004R|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2197	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACAAGGTGCGGGCAGGAGGCC	0.632000														36			12		3.07112e-06	3.09768e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152285315	152285315	+	Missense_Mutation	SNP	G	A	A	rs149385928	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:152285315G>A	uc001ezu.1	-	2	2083	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	683	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R683S(2)		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)			TGTGTGTGACGAGTGCCTGAT	0.552000									Ichthyosis					495			256		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133365751	133365751	+	Silent	SNP	G	A	A	rs80194721	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:133365751G>A	uc001ukz.1	-	12	3232	c.2673C>T	c.(2671-2673)caC>caT	p.H891H	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.H891H|GOLGA3_uc001ulb.3_Silent_p.H891H	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	891					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTTCTCCCCGTGCACTTGCA	0.637000														96			5		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33747153	33747153	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:33747153C>G	uc002rox.3	+	7	1127	c.500C>G	c.(499-501)tCt>tGt	p.S167C	RASGRP3_uc010ync.2_Missense_Mutation_p.S167C|RASGRP3_uc002roy.3_Missense_Mutation_p.S167C	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	167	Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGCATAAATCTTTTAGAAGG	0.418000														158			108		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614532	247614532	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:247614532G>A	uc010pyx.2	-	0	753	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I251I(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGAGGGAGACGATCATCAGGT	0.512000														104			56		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130144	122130144	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:122130144C>A	uc022akp.1	-	10	2265	c.1843G>T	c.(1843-1845)Gct>Tct	p.A615S	CADPS2_uc003vkg.4_Missense_Mutation_p.A315S|CADPS2_uc022akq.1_Missense_Mutation_p.A615S|CADPS2_uc010lkq.3_Missense_Mutation_p.A615S|CADPS2_uc022akr.1_Missense_Mutation_p.A615S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	615					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAAAGCTGAGCATCTGCATGG	0.333000														181			24		1.96895e-08	1.98942e-08	1	1	0
MACC1	346389	broad.mit.edu	37	7	20199046	20199046	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:20199046C>T	uc003sus.4	-	4	1247	c.938G>A	c.(937-939)aGc>aAc	p.S313N	MACC1_uc010kug.3_Missense_Mutation_p.S313N	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	313					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTACCCAAGCTGTGTAAACA	0.398000														87			56		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059015	79059015	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:79059015G>A	uc002bej.4	-	18	3449	c.3238C>T	c.(3238-3240)Ccc>Tcc	p.P1080S	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1080					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1079W(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCTCAGAGGGCCCGTAGGAC	0.637000														25			13		0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868369	31868369	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31868369G>A	uc003nyd.1	-	1	890	c.714C>T	c.(712-714)tcC>tcT	p.S238S	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Silent_p.S238S|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	238	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGCCACCCACGGAGCCTCCAA	0.662000														57			35		0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170476941	170476941	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:170476941G>A	uc003isd.2	-	17	2070	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	NEK1_uc003ise.2_Intron|NEK1_uc003isb.2_Missense_Mutation_p.P498S|NEK1_uc003isc.2_Intron|NEK1_uc003isf.2_Intron|NEK1_uc003isg.1_Missense_Mutation_p.P419S	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	498					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGCATCAGGAAAATGGTGA	0.413000														59			45		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956685	143956685	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:143956685C>T	uc010mey.3	-	8	1385	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	CYP11B1_uc010mex.3_Missense_Mutation_p.D88N|CYP11B1_uc003yxh.3_Missense_Mutation_p.D105N|CYP11B1_uc003yxi.3_Missense_Mutation_p.D389N|CYP11B1_uc003yxj.3_Missense_Mutation_p.D389N	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	389					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCACCAAGTCTGAGCTCGCC	0.612000									Familial Hyperaldosteronism type I					26			7		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912095	127912095	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:127912095G>A	uc010mwv.3	-	7	1107	c.886C>T	c.(886-888)Cct>Tct	p.P296S	PPP6C_uc004bpg.4_Missense_Mutation_p.P259S|PPP6C_uc010mww.3_Missense_Mutation_p.P237S|PPP6C_uc011lzr.2_Missense_Mutation_p.P112S	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	259					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.P259S(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						CAGTAATTAGGAGCAGACCAT	0.388000														23			56		0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974158	31974158	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31974158A>G	uc021yve.1	+	0	800	c.238A>G	c.(238-240)Aga>Gga	p.R80G	CYP21A2_uc021yvd.1_Missense_Mutation_p.K103R			Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	0							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGTGTCTAAGAACTACCCG	0.607000														4			3		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64435984	64435984	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:64435984C>T	uc021qkw.1	-	7	1752	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	NRXN2_uc021qkx.1_Silent_p.G399G|NRXN2_uc001oas.3_Silent_p.G399G|NRXN2_uc001oaq.3_Silent_p.G97G	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	430	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGGGGCTGCCCCCAATGTAGA	0.612000														86			59		0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98942012	98942012	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:98942012C>T	uc003upx.2	+	3	427	c.266C>T	c.(265-267)aCc>aTc	p.T89I	ARPC1A_uc003upy.2_Missense_Mutation_p.T75I|ARPC1A_uc011kit.2_Non-coding_Transcript	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1A, 41kDa (ARPC1A), transcript variant 1, mRNA.	89					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGCCAACCCTGGTGATC	0.512000														102			91		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:7577114C>T	uc002gim.2	-	7	1018	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				3			25		0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43624373	43624373	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:43624373G>A	uc003ovx.2	+	3	607	c.538G>A	c.(538-540)Gag>Aag	p.E180K	RSPH9_uc003ovw.2_Missense_Mutation_p.E195K	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	195					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGAGCCTGTTGAGCTAAAGAA	0.493000									Kartagener syndrome					286			182		0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89070876	89070876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:89070876G>A	uc002bmq.2	-	3	1447	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.P409S|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	409						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTGAGCAGGGAAACTGAACT	0.438000														46			22		0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109764994	109764995	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:109764994_109764995GG>AA	uc003pti.3	+	9	1552_1553	c.1158_1159GG>AA	c.(1156-1161)caggct>caAAct	p.A387T	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	387					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ATAGGGCCCAGGCTGAGCTCCA	0.619000														50			35		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123556151	123556151	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:123556151T>A	uc010nqy.3	-	23	4506	c.4442A>T	c.(4441-4443)aAa>aTa	p.K1481I	ODZ1_uc011muj.2_Missense_Mutation_p.K1480I|ODZ1_uc004euj.3_Missense_Mutation_p.K1474I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1474					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TGGATCAATTTTGCAGTCACA	0.448000														82			4		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809599	809599	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:809599G>A	uc001abt.4	-	1		c.994C>T								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		ACGGGCGAGGGCATGGAAGAG	0.527000														122			79		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712902	128712902	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128712902C>G	uc010fmd.2	-	15	2290	c.2158G>C	c.(2158-2160)Gaa>Caa	p.E720Q	SAP130_uc002tpn.2_Missense_Mutation_p.E445Q|SAP130_uc002tpp.2_Missense_Mutation_p.E685Q|SAP130_uc002tpq.1_Missense_Mutation_p.E693Q	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	685	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACGTGGATTTCAGACTTGGGT	0.438000														105			28		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41684183	41684183	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:41684183G>A	uc002yyq.1	-	8	2339	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	629	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTCTGCCAGGTGATCGTGA	0.532000														40			22		0	0	1	0	0
CXorf41	139212	broad.mit.edu	37	X	106462146	106462146	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:106462146G>A	uc004end.3	+	4	616	c.279G>A	c.(277-279)gaG>gaA	p.E93E	CXorf41_uc004enc.3_Silent_p.E93E	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	93										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						ATTCAGAAGAGATTCCAGAAG	0.403000														10			24		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30673545	30673545	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30673545G>A	uc003nrg.4	-	9	3855	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P746S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1139	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTGGGCTTGGGAGTGACTGGC	0.577000								Other conserved DNA damage response genes						190			130		0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111539836	111539836	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:111539836G>A	uc003iaf.3	-	6	2222	c.399C>T	c.(397-399)ttC>ttT	p.F133F	PITX2_uc003iac.3_Silent_p.F140F|PITX2_uc003iad.3_Silent_p.F133F|PITX2_uc021xqr.1_Silent_p.F133F|PITX2_uc003iae.3_Silent_p.F87F|PITX2_uc021xqs.1_Silent_p.F87F	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	133			Missing (in RIEG1; more than 100-fold reduction in DNA binding activity as well as no detectable transactivation activity).		determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T132M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACGATTCTTGAACCAAACCT	0.587000														97			19		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46708195	46708195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:46708195C>T	uc011aqy.2	+	4	1132	c.920C>T	c.(919-921)cCa>cTa	p.P307L	GTSE1_uc011aqz.2_Missense_Mutation_p.P154L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	288					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATCCCTGTTCCAAACAAGGTG	0.582000														29			20		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119488215	119488215	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:119488215G>C	uc004bjt.2	-	14	2589	c.2488C>G	c.(2488-2490)Ctc>Gtc	p.L830V	ASTN2_uc022bml.1_Missense_Mutation_p.L526V|ASTN2_uc022bmm.1_Missense_Mutation_p.L530V	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	881						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGGATCTTGAGAACATTAGTG	0.547000														64			18		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103198474	103198474	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:103198474G>A	uc022ajr.1	-	36	5712	c.5552C>T	c.(5551-5553)tCa>tTa	p.S1851L	RELN_uc022ajq.1_Missense_Mutation_p.S1851L|RELN_uc010liz.3_Missense_Mutation_p.S1851L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1851					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGATCTCTTGAAATAAGCAT	0.279000														60			44		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422059	53422059	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:53422059G>A	uc001vhi.3	-	0	717	c.513C>T	c.(511-513)acC>acT	p.T171T	PCDH8_uc001vhj.3_Silent_p.T171T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	171	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGCGCACGGTCTGCAGCC	0.716000														9			3		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361251	70361251	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:70361251G>A	uc003hek.4	-	0	376	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.S110L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	110					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTACTTGTGAAAAATATGA	0.323000														18			14		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927896	31927896	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31927896G>A	uc003nyn.1	+	3	625	c.236_splice	c.e3+1	p.R79_splice	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	79						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACTCAGCCCGGTGAGGAGTC	0.547000														57			35		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401079	55401079	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:55401079C>T	uc002qhr.1	+	4	911	c.714C>T	c.(712-714)ctC>ctT	p.L238L	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Silent_p.L189L|FCAR_uc010esi.1_Silent_p.L115L|FCAR_uc002qhu.1_Silent_p.L142L|FCAR_uc002qhv.1_Silent_p.L216L|FCAR_uc002qhw.1_Silent_p.L226L|FCAR_uc002qhx.1_Silent_p.L130L|FCAR_uc002qhy.1_Silent_p.L204L|FCAR_uc002qhz.1_Missense_Mutation_p.R202C|FCAR_uc002qia.1_Silent_p.L129L	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	238					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.L238L(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GACTGGTCCTCGTGGCTCTCT	0.542000														252			194		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404285	20404285	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:20404285C>T	uc001vwj.2	+	0	519	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGTGGGCGTTCTTCATTCTGT	0.463000														236			55		0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9570884	9570884	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:9570884C>T	uc002qzo.1	+	3	251	c.216C>T	c.(214-216)ttC>ttT	p.F72F	CPSF3_uc010ewx.1_Silent_p.F72F|CPSF3_uc002qzp.1_Silent_p.F35F	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3, 73kDa (CPSF3), mRNA.	72					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|RNA binding|endoribonuclease activity|metal ion binding|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTTAAGTTTCCATTTGGATC	0.338000														132			74		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42751272	42751272	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:42751272T>C	uc003cly.4	-	14	1976	c.1892A>G	c.(1891-1893)aAc>aGc	p.N631S		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	631										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTGTGCCTGTTGTTAGAGGT	0.602000														96			40		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964001	209964001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:209964001C>T	uc001hhq.2	-	6	1203	c.899G>A	c.(898-900)aGa>aAa	p.R300K	IRF6_uc010psm.2_Missense_Mutation_p.R205K	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	300					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D299N(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GATCAGTCCTCTGTCCATGAC	0.547000										HNSCC(57;0.16)				63			57		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906967	43906967	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:43906967G>A	uc001cjk.2	+	51	7340	c.4730G>A	c.(4729-4731)cGg>cAg	p.R1577Q		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2476						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCGGGGCCGGAGGCGTCAC	0.557000														115			78		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133015206	133015206	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:133015206G>A	uc003qdo.3	-	2	477	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	153	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCATCAGGGGGACACTGAGGA	0.433000														122			31		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415480	10415480	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:10415480G>A	uc002gmo.3	-	12	1271	c.1177C>T	c.(1177-1179)Ctg>Ttg	p.L393L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	393	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGAGTTCAGATTTTGGAGA	0.468000														191			61		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008231	11008231	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:11008231C>T	uc010oao.2	-	11	1961	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E	C1orf127_uc001ars.2_Missense_Mutation_p.G489E|C1orf127_uc001arr.2_Missense_Mutation_p.G497E	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	505										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GAGTCCCGGCCCCTCTATGTC	0.642000														56			37		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906277	153906277	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:153906277G>A	uc001fdd.1	-	19	3413	c.3012C>T	c.(3010-3012)gaC>gaT	p.D1004D		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1004										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCAGGCTCAGGTCTGAGAGAC	0.632000														24			8		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44555533	44555533	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:44555533G>A	uc003tlb.3	-	18	3802	c.3746C>T	c.(3745-3747)cCt>cTt	p.P1249L	NPC1L1_uc011kbw.2_Missense_Mutation_p.P1176L|NPC1L1_uc003tlc.3_Missense_Mutation_p.P1222L|NPC1L1_uc003tla.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1249					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGGATGCCAGGCAGGTTGGT	0.622000														37			34		0	0	1	0	0
FAM120AOS	158293	broad.mit.edu	37	9	96214705	96214705	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr9:96214705G>C	uc004atu.4	-	0	1170	c.287C>G	c.(286-288)cCc>cGc	p.P96R	FAM120AOS_uc004atp.4_5'Flank|FAM120AOS_uc004atq.4_5'Flank|FAM120AOS_uc004atn.4_5'Flank|FAM120AOS_uc004ats.4_Intron|FAM120AOS_uc004att.4_Intron|FAM120A_uc004atv.3_Intron|FAM120A_uc004atw.3_Intron	NM_198841	NP_942138	Q5T036	F120S_HUMAN	Homo sapiens family with sequence similarity 120A opposite strand (FAM120AOS), mRNA.	96	Arg-rich.									kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						ccggggaccggggccgcgccg	0.746000														5			8		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179843	124179843	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:124179843A>T	uc010sag.2	-	0	820	c.820T>A	c.(820-822)Tcc>Acc	p.S274T		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AACACAGAGGACACCTTCTCC	0.463000														97			7		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688605	3688605	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:3688605G>A	uc001lyf.3	-	3	824	c.752C>T	c.(751-753)tCg>tTg	p.S251L	CHRNA10_uc010qxt.2_Missense_Mutation_p.S45L|CHRNA10_uc010qxu.2_Missense_Mutation_p.S45L	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	251					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCAAGCAGCGAGATGAGCAC	0.692000														13			6		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887272	12887272	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:12887272C>T	uc001auk.2	-	2	781	c.585G>A	c.(583-585)caG>caA	p.Q195Q		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	195										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAACGAGCTTCTGAAGATTCC	0.507000														412			232		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147488344	147488344	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:147488344G>A	uc003lox.2	+	17	1709	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	SPINK5_uc010jgs.1_Missense_Mutation_p.D518N|SPINK5_uc010jgr.2_Missense_Mutation_p.D527N|SPINK5_uc003low.2_Missense_Mutation_p.D546N|SPINK5_uc003loy.2_Missense_Mutation_p.D546N	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	546	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaagaaaaatgataaagaaga	0.333000														36			54		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432380	79432380	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:79432380G>A	uc001xun.3	+	8	1780	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G555E	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACAATGGTGGGAGACCATACC	0.428000														69			24		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57126684	57126684	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:57126684G>A	uc002iwy.4	-	14	1829	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	TRIM37_uc002iwz.4_Missense_Mutation_p.P462L|TRIM37_uc002ixa.4_Missense_Mutation_p.P340L|TRIM37_uc010woc.2_Missense_Mutation_p.P428L	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	462						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ATCATTTTGGGGGCTAAGATG	0.428000									Mulibrey Nanism					96			24		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261702	21261702	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21261702G>A	uc010bwp.1	+	1	858	c.815G>A	c.(814-816)gGa>gAa	p.G272E	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	272										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGGTCTAGGAAGTATTGTT	0.453000														43			44		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69096520	69096520	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:69096520C>T	uc011bfx.2	-	1	1583	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	TMF1_uc003dnn.3_Missense_Mutation_p.D446N	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	446					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGCAAACATCTTCCTTCTCA	0.373000														151			89		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160769859	160769859	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:160769859C>T	uc001fwu.3	+	1	491	c.441C>T	c.(439-441)acC>acT	p.T147T	LY9_uc001fwt.3_Silent_p.T147T|LY9_uc010pjs.1_Silent_p.T147T|LY9_uc001fwv.3_Silent_p.T147T|LY9_uc001fww.3_Silent_p.T147T|LY9_uc001fwy.1_Silent_p.T49T	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	147	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAATTCACCCTGTTCGTCT	0.393000														102			76		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954602	70954602	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:70954602C>T	uc002ezr.3	-	45	7825	c.7674G>A	c.(7672-7674)aaG>aaA	p.K2558K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2559			G -> E (in dbSNP:rs8044142).							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)				ccttctccttcttcccttcgt	0.622000														14			5		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112319689	112319689	+	Silent	SNP	C	T	T	rs148478583		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:112319689C>T	uc001ebu.1	-	6	2205	c.1725G>A	c.(1723-1725)acG>acA	p.T575T	KCND3_uc001ebv.1_Silent_p.T556T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	575						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGTGGATCGTGCTGAGCT	0.567000														50			32		0	0	1	0	0
ADAT2	134637	broad.mit.edu	37	6	143755089	143755089	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:143755089G>A	uc003qjj.3	-	2	277	c.231C>T	c.(229-231)atC>atT	p.I77I	ADAT2_uc003qjk.1_Non-coding_Transcript	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 2 (ADAT2), mRNA.	77					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		GGACCTGATCGATGGCCACCA	0.443000														144			44		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208202359	208202359	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:208202359T>C	uc001hgz.3	-	29	6012	c.5254A>G	c.(5254-5256)Att>Gtt	p.I1752V	PLXNA2_uc001hgy.3_Missense_Mutation_p.I22V	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1752					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGTTCTTAATCACGTTCACC	0.562000														56			36		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81197325	81197325	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:81197325G>A	uc002fgh.1	-	20	3357	c.3357C>T	c.(3355-3357)ttC>ttT	p.F1119F	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1119	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCTCTTTGGGAAACTCATGA	0.547000														14			4		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46727067	46727067	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:46727067G>A	uc003cqa.2	-	6	927	c.734C>T	c.(733-735)cCg>cTg	p.P245L	ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.P245L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	245					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding	p.P245L(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCCCGCAACGGTGCGACCGT	0.612000														28			22		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771437	143771437	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143771437G>A	uc011ktx.2	+	0	125	c.125G>A	c.(124-126)gGg>gAg	p.G42E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTGGGGAACGGGACAATCCTG	0.547000														124			89		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:46107841C>T	uc003oxy.3	+	1	780	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000														118			90		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837846	93837846	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:93837846G>A	uc001pep.2	+	15	2992	c.2835G>A	c.(2833-2835)aaG>aaA	p.K945K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	945	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ACAATATTAAGAAGTATCTCA	0.343000														141			80		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152273381	152273381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:152273381G>A	uc002txm.3	+	5	630	c.469G>A	c.(469-471)Gtt>Att	p.V157I	RIF1_uc010fnv.2_Missense_Mutation_p.V121I|RIF1_uc002txn.3_Missense_Mutation_p.V157I|RIF1_uc002txl.3_Missense_Mutation_p.V157I|RIF1_uc002txo.3_Missense_Mutation_p.V157I|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	157					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCATTCTGCTGTTGTTGATTT	0.313000														127			31		0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241534053	241534053	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:241534053C>T	uc002vzk.2	+	5	1120	c.924C>T	c.(922-924)ttC>ttT	p.F308F	CAPN10_uc010zoh.2_Silent_p.F308F|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Silent_p.F308F|CAPN10_uc002vzn.2_Silent_p.F180F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	308	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGGAGGAGTTCCTCAGGGAGT	0.642000														35			65		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993535	8993535	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:8993535C>T	uc002mkp.3	-	65	41758	c.41554G>A	c.(41554-41556)Gat>Aat	p.D13852N	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.D669N|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13855	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCCCCATCTTTCTCTGGC	0.592000														66			10		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45076619	45076619	+	Splice_Site	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:45076619C>T	uc002zdi.3	-	3	369	c.37_splice	c.e3-1	p.H13_splice	RRP1B_uc002zdk.3_5'Flank|HSF2BP_uc011aey.2_Intron	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	13					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		TTCCCATGTGCTAAAAGAACA	0.373000														69			12		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604239	111604239	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:111604239G>A	uc010hqa.3	+	1	1726	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E466K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E439K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E439K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E439K|PHLDB2_uc003dye.4_Missense_Mutation_p.E439K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E439K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	439						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGACTCAGGGAGCAGGAAAT	0.512000														82			44		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71002892	71002892	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:71002892C>G	uc001swb.4	-	1	312	c.282G>C	c.(280-282)agG>agC	p.R94S	PTPRB_uc010sto.2_Missense_Mutation_p.R94S|PTPRB_uc010stp.2_Missense_Mutation_p.R94S|PTPRB_uc001swc.4_Missense_Mutation_p.R312S|PTPRB_uc001swa.4_Missense_Mutation_p.R312S|PTPRB_uc001swd.4_Missense_Mutation_p.R311S|PTPRB_uc009zrr.2_Missense_Mutation_p.R191S|PTPRB_uc001swe.3_Missense_Mutation_p.R312S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	94	Fibronectin type-III 1.		R -> K (in dbSNP:rs2252784).		angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGAAATAATCCTGAAGTTAT	0.498000														108			7		0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152437	58152437	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:58152437G>A	uc001spx.2	+	3	1229	c.798G>A	c.(796-798)aaG>aaA	p.K266K	MARCH9_uc001spy.3_Silent_p.K153K	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	266						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATTATGACAAGACCAAGGACA	0.607000														27			25		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102105249	102105249	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:102105249C>T	uc001vpb.3	+	0	284	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ITGBL1_uc010agb.3_Missense_Mutation_p.S22L|ITGBL1_uc001vpc.4_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	22					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGGGTTGTCAGCTGTTCCT	0.557000														99			12		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39602391	39602391	+	Silent	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:39602391T>C	uc003xnj.3	-	19	2271	c.2196A>G	c.(2194-2196)gaA>gaG	p.E732E	ADAM2_uc003xnk.3_Silent_p.E713E|ADAM2_uc011lck.2_Silent_p.E669E|ADAM2_uc003xnl.3_Silent_p.E576E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	732					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACCCTTTAGGTTCACTCTCAC	0.323000														108			30		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27394305	27394305	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:27394305G>A	uc003cdt.2	-	2	343	c.69C>T	c.(67-69)atC>atT	p.I23I	NEK10_uc021wuk.1_Silent_p.I23I	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	23							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAGTTACCTGATGGTGATTT	0.378000														44			17		0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128396952	128396952	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:128396952C>T	uc002tpa.3	-	9	1096	c.930G>A	c.(928-930)gaG>gaA	p.E310E	LIMS2_uc002tov.3_Silent_p.E158E|LIMS2_uc002tow.3_Silent_p.E158E|LIMS2_uc002tox.3_Silent_p.E334E|LIMS2_uc010fmb.3_Silent_p.E220E|LIMS2_uc002toy.3_Silent_p.E305E|LIMS2_uc002toz.3_Silent_p.E305E|LIMS2_uc010yzm.2_Silent_p.E332E|LIMS2_uc002tpb.3_Silent_p.E305E	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	310	LIM zinc-binding 5.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GCGGGAACTTCTCGTAGCACC	0.587000														221			117		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827432	72827432	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:72827432G>A	uc002fck.3	-	8	9822	c.9149C>T	c.(9148-9150)tCc>tTc	p.S3050F	ZFHX3_uc002fcl.3_Missense_Mutation_p.S2136F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3050					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAACTTTGGAGATATGCTG	0.488000														133			51		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101530	14101530	+	Silent	SNP	G	A	A	rs147795614	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:14101530G>A	uc001mle.3	+	5	904	c.636G>A	c.(634-636)ggG>ggA	p.G212G		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	213	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CATTTTATGGGAATTGGTCCG	0.458000														43			46		0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57751598	57751598	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:57751598C>T	uc003jrn.3	-	10	1573	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N	PLK2_uc021xyx.1_Missense_Mutation_p.D451N	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	465					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATGGTACTGTCTTCAAGGCCT	0.428000														34			52		0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101873	9101873	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:9101873C>T	uc001apo.3	-	4	834	c.542G>A	c.(541-543)gGt>gAt	p.G181D	SLC2A5_uc010nzy.2_Missense_Mutation_p.G122D|SLC2A5_uc010nzz.2_Missense_Mutation_p.G66D|SLC2A5_uc010oaa.2_Missense_Mutation_p.G137D|SLC2A5_uc010oac.2_3'UTR|SLC2A5_uc001app.4_Missense_Mutation_p.G181D	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	181					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCCGAAGACCAAAGATCTG	0.577000														71			31		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235631	102235631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:102235631C>T	uc001vpb.3	+	5	1012	c.793C>T	c.(793-795)Cat>Tat	p.H265Y	ITGBL1_uc010agb.3_Missense_Mutation_p.H216Y|ITGBL1_uc001vpc.4_Missense_Mutation_p.H124Y	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	265	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGGAGATATTCATGGGGACAC	0.458000														229			42		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43327234	43327234	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:43327234G>A	uc002yzw.3	-	9	1427	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	C2CD2_uc002yzt.3_Silent_p.I11I|C2CD2_uc002yzu.3_Silent_p.I227I|C2CD2_uc002yzv.3_Silent_p.I240I|C2CD2_uc002yzx.1_Silent_p.I240I	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	395						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CAGGGGGAGGGATGGGCCAGG	0.527000														33			13		0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36992681	36992681	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:36992681C>T	uc002xic.1	+	6	740	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	235					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TAGTGGAAGCCCCTCGGGCAA	0.542000														47			22		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912519	23912519	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:23912519A>C	uc001uon.2	-	9	6085	c.5496T>G	c.(5494-5496)ttT>ttG	p.F1832L	SACS_uc001uoo.2_Missense_Mutation_p.F1685L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1832					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTCAGGGAAAACTTCAGAG	0.488000														70			71		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961316	1961316	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:1961316C>T	uc010gaj.3	-	2	660	c.418G>A	c.(418-420)Gga>Aga	p.G140R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G140R|PDYN_uc021vzt.1_Missense_Mutation_p.G140R|PDYN_uc021vzu.1_Missense_Mutation_p.G140R|PDYN_uc002wfv.3_Missense_Mutation_p.G140R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	140					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.E139K(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GACTCTGCTCCCTCCCTAAAC	0.547000														99			44		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57395215	57395215	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:57395215C>T	uc001cyp.3	-	11	1705	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	C8B_uc010oon.2_Silent_p.G484G|C8B_uc010ooo.2_Silent_p.G494G	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	546	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AATTCCACTTCCCATCAATGG	0.453000														52			32		0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758177	77758177	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:77758177C>T	uc002jxc.3	+	4	993	c.935C>T	c.(934-936)cCc>cTc	p.P312L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	312					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCGAAGGCCCCCAGCGGTGGG	0.677000														22			7		0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5418622	5418622	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:5418622G>A	uc003gih.1	+	5	587	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	STK32B_uc010ida.1_Missense_Mutation_p.E128K	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	175	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GAAAGGAGCAGAAAGGGCTTC	0.522000														17			16		0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41021022	41021022	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr15:41021022G>A	uc001zmi.4	+	7	943	c.644_splice	c.e7+1	p.R215_splice	RAD51_uc010bbw.3_Splice_Site_p.R215_splice|RAD51_uc010bbx.3_Splice_Site_p.R216_splice|RAD51_uc001zml.4_Splice_Site_p.R216_splice	NM_002875	NP_002866	Q06609	RAD51_HUMAN	Homo sapiens RAD51 homolog (S. cerevisiae) (RAD51), transcript variant 1, mRNA.	215	Interaction with PALB2.				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	PML body|mitochondrial matrix|nucleus|perinuclear region of cytoplasm	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GTAGAATCTAGGTATGTGTTC	0.413000								Homologous recombination						50			86		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057725	158057725	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:158057725G>T	uc003ipj.2	+	4	604	c.402G>T	c.(400-402)atG>atT	p.M134I	GLRB_uc021xtp.1_Missense_Mutation_p.M134I|GLRB_uc021xtq.1_Missense_Mutation_p.M134I	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	134					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATCCAACAATGTACAAGTGTT	0.393000														79			67		1.3268e-25	1.36907e-25	1	1	0
FTMT	94033	broad.mit.edu	37	5	121187968	121187968	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:121187968G>A	uc003kss.3	+	0	319	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	104	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R103R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCTCCCGGGATGACGTGGC	0.577000														20			25		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949237	26949237	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:26949237T>G	uc001wqa.3	-	3	813	c.27A>C	c.(25-27)gaA>gaC	p.E9D	NOVA1_uc001wpy.3_Missense_Mutation_p.E131D|NOVA1_uc001wpz.3_Missense_Mutation_p.E131D|NOVA1_uc001wqb.3_Missense_Mutation_p.E131D	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	134					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.E131E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGCTGACTGGTTCTGTCTTGG	0.433000														196			24		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2722538	2722538	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:2722538C>T	uc002klm.4	+	19	2669	c.2480C>T	c.(2479-2481)tCa>tTa	p.S827L	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Intron	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	827					chromosome organization		ATP binding	p.A827V(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAGAAATTTTCATTTGGTCTT	0.368000														94			49		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81952525	81952525	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:81952525C>T	uc003hmg.4	+	0	407	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	29					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGCCACCTTTCCCGGAGCTCC	0.662000														15			4		0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626602	56626602	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:56626602C>T	uc010sqj.2	+	4	674	c.417C>T	c.(415-417)ctC>ctT	p.L139L	SLC39A5_uc010sqi.2_Silent_p.L30L|SLC39A5_uc010sqk.2_Silent_p.L139L	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	139					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTGGACCTCCTTCACAGGC	0.612000														79			16		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68863657	68863658	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:68863657_68863658CC>TT	uc002ewg.1	+	14	2520_2521	c.2396_2397CC>TT	c.(2395-2397)ccc>cTT	p.P799L	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P738L	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	799					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CGGTATCTTCCCCGCCCTGCCA	0.525000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					99			42		0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719448	74719448	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:74719448C>T	uc002slt.2	+	10	1060	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Missense_Mutation_p.S200F	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	346							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GGAAATCGTTCCTTCTGCCAT	0.632000														58			32		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49407941	49407941	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:49407941C>G	uc002efr.3	+	0	134	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	31										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CATGTCTGACCTCACCTGTGT	0.502000														88			43		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683613	100683613	+	Silent	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:100683613T>G	uc003uxp.1	+	2	8969	c.8916T>G	c.(8914-8916)gcT>gcG	p.A2972A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2972	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCTGAAGGTACCA	0.517000														841			106		0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180835714	180835714	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:180835714C>T	uc010frh.1	-	8	1194	c.894G>A	c.(892-894)aaG>aaA	p.K298K	CWC22_uc002unp.2_Silent_p.K298K	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	298	MIF4G.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGCCACATTCCTTAAGAAAAC	0.338000														66			25		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40945727	40945727	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:40945727G>A	uc002ibj.3	+	11	2343	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K	WNK4_uc010wgx.2_Missense_Mutation_p.E423K|WNK4_uc002ibk.1_Missense_Mutation_p.E531K|WNK4_uc010wgy.1_Missense_Mutation_p.E103K	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	759					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGAGGCTGCTGAAGACACCCT	0.572000														27			29		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563278	47563278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr18:47563278C>T	uc002leb.2	-	3	685	c.397G>A	c.(397-399)Gga>Aga	p.G133R	MYO5B_uc021ukb.1_Missense_Mutation_p.G132R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	133	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.G133E(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCATGTCTCCCATGTTTTGG	0.473000														60			19		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108139321	108139321	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:108139321C>T	uc001pkb.1	+	17	3208	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	ATM_uc009yxr.1_Silent_p.S941S|ATM_uc009yxs.1_Non-coding_Transcript	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	941					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTACCAAATCCCTCCACCTGC	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				45			58		0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76397623	76397623	+	Silent	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:76397623T>C	uc001dhe.2	-	0	494	c.354A>G	c.(352-354)acA>acG	p.T118T	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	118					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CATAGTCTTTTGTCTTCTTGA	0.343000														38			23		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106997	234106997	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:234106997C>T	uc010zmo.2	+	23	3016	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	INPP5D_uc010zmp.2_Missense_Mutation_p.L954F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	984	Pro-rich.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AAACCGGGGTCTCCCTCCCAG	0.597000														17			14		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100361870	100361870	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:100361870C>T	uc001dsi.1	+	24	3688	c.3288C>T	c.(3286-3288)ttC>ttT	p.F1096F	AGL_uc001dsj.1_Silent_p.F1096F|AGL_uc001dsk.1_Silent_p.F1096F|AGL_uc001dsl.1_Silent_p.F1096F|AGL_uc001dsm.1_Silent_p.F1080F|AGL_uc001dsn.1_Silent_p.F1079F	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1096					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTGGTATTTTCCGCTGCTGGG	0.373000														178			97		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943624	9943624	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:9943624G>A	uc010uym.2	-	5	1627	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	GRIN2A_uc002czo.4_Silent_p.F439F|GRIN2A_uc010uyn.2_Silent_p.F282F|GRIN2A_uc002czr.4_Silent_p.F439F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	439					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGATTTTGACGAACTTCCGAC	0.502000														81			24		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967631	4967631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:4967631C>T	uc010qys.2	-	0	700	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233N(1)		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)		TTAAGCTGCTCCTTTTTGGAT	0.473000														92			51		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652184	1652184	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:1652184C>T	uc002qxa.3	-	16	3432	c.3368G>A	c.(3367-3369)gGg>gAg	p.G1123E		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1123					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCCGCCACCCCGAACAGCCC	0.617000														60			8		0	0	1	0	0
AK125237	0	broad.mit.edu	37	10	27577640	27577640	+	RNA	SNP	G	T	T	rs3818746	by1000genomes	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:27577640G>T	uc001itt.1	+	3		c.530G>T								Homo sapiens cDNA FLJ43247 fis, clone HEART2000611.																		AACTGTTAGCGATAGCTCCTC	0.403000														37			3		1	1	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56094084	56094084	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:56094084T>G	uc001shh.3	-	4	984	c.764A>C	c.(763-765)gAc>gCc	p.D255A	ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Missense_Mutation_p.D158A|ITGA7_uc009znx.3_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	255					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGGCGGGGGTCCTGCTCCTT	0.652000														31			7		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51470438	51470438	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:51470438G>A	uc002puh.3	-	1	276	c.211C>T	c.(211-213)Cac>Tac	p.H71Y	KLK6_uc010eoj.3_Missense_Mutation_p.H62Y|KLK6_uc002pui.3_Missense_Mutation_p.H62Y|KLK6_uc002puj.3_5'UTR|KLK6_uc010ycn.2_Intron|KLK6_uc002pul.3_Missense_Mutation_p.H62Y|KLK6_uc002pum.3_Intron	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	62	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.V70V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTTTTGCAGTGGGCAGCTGTG	0.542000														48			35		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86873069	86873069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:86873069C>T	uc004efa.2	+	3	1044	c.862C>T	c.(862-864)Cga>Tga	p.R288*	KLHL4_uc004efb.2_Nonsense_Mutation_p.R288*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	288						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CTTAGGGATTCGATCATTTGG	0.418000														21			60		0	0	1	0	0
POU5F1P4	645682	broad.mit.edu	37	1	155403463	155403463	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:155403463G>A	uc010pgc.1	-	0		c.11C>T			ASH1L_uc001fkt.3_Intron|ASH1L_uc009wqq.3_Intron|POU5F1P4_uc010pgd.2_Silent_p.Q157Q					Homo sapiens partial mRNA for POU class 5 homeobox 1 pseudogene 4, clone BM-TAKA-09_AS.																		GATATACACAGGCCGATGTGG	0.517000														17			5		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47451683	47451683	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:47451683C>T	uc003crf.1	+	19	2491	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	PTPN23_uc011baw.1_Missense_Mutation_p.P764S|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.P669S	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	799	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTACTCGGGCCCCACCCAGCT	0.692000														12			10		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685265	248685265	+	Silent	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248685265G>T	uc001ien.1	+	0	318	c.318G>T	c.(316-318)ggG>ggT	p.G106G		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCATGGGGTTGGGCTCGT	0.542000														116			38		1.96642e-18	2.02191e-18	1	1	0
PRSS3P2	154754	broad.mit.edu	37	7	142482330	142482330	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:142482330A>C	uc011ksq.2	+	4	793	c.710A>C	c.(709-711)gAc>gCc	p.D237A	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AACTATGTGGACTGGATTAAG	0.498000														171			10		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794585	55794585	+	Silent	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:55794585C>A	uc010spl.2	+	0	273	c.273C>A	c.(271-273)tcC>tcA	p.S91S		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91F(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CAACCATTTCCTATAATGCTT	0.353000														107			58		1.44317e-28	1.49444e-28	1	1	0
TRIM10	10107	broad.mit.edu	37	6	30128423	30128423	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30128423G>A	uc003npo.3	-	0	289	c.213C>T	c.(211-213)ccC>ccT	p.P71P	TRIM10_uc003npn.2_Silent_p.P71P|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	71						cytoplasm	zinc ion binding	p.P71P(1)		ovary(1)	1						GCTGCCAGTTGGGCCGGAAGC	0.602000														178			106		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490846	157490846	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:157490846C>T	uc009wsm.3	-	10	2634	c.2476G>A	c.(2476-2478)Ggg>Agg	p.G826R	FCRL5_uc001fqu.3_Missense_Mutation_p.G826R	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	826	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.G826R(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTGGGCCCCGAGGCCATTG	0.567000														71			28		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841272	91841272	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:91841272G>A	uc001doa.4	-	11	1507	c.1408C>T	c.(1408-1410)Ctt>Ttt	p.L470F	HFM1_uc010osu.2_Missense_Mutation_p.L149F|HFM1_uc010osv.1_Missense_Mutation_p.L154F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	470	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCATCTGAAAGCCATTCTGCA	0.363000														80			87		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285787	238285787	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:238285787G>A	uc002vwl.2	-	6	2983	c.2698C>T	c.(2698-2700)Ctg>Ttg	p.L900L	COL6A3_uc002vwo.2_Silent_p.L694L|COL6A3_uc010znj.1_Silent_p.L293L|COL6A3_uc002vwq.3_Silent_p.L694L|COL6A3_uc002vwr.3_Silent_p.L493L|COL6A3_uc010znk.1_Silent_p.L700L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	900	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAAGATTCAGGATCTCAGGC	0.517000														48			52		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54545436	54545436	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:54545436C>T	uc002qcw.4	-	5	678	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.E80K|VSTM1_uc002qcx.4_Missense_Mutation_p.E137K|VSTM1_uc010erb.3_Intron|VSTM1_uc021vbg.1_Missense_Mutation_p.E48K	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	168						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TTGGTGGATTCCTCAGATGAT	0.493000														136			41		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107122260	107122260	+	RNA	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:107122260C>T	uc021ser.1	-	86		c.4030G>A								Parts of antibodies, mostly variable regions.																		CTACCCACTCCAGCCCCTTTC	0.517000														92			39		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060437	111060437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:111060437G>A	uc001dzt.1	-	0	1361	c.973C>T	c.(973-975)Cag>Tag	p.Q325*		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	325						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)		TCTGTCTCCTGGACTAGCTCT	0.532000														154			82		0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30558470	30558470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:30558470C>T	uc003nql.3	+	24	2625	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	ABCF1_uc003nqm.3_Nonsense_Mutation_p.R806*	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	844					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	p.R844R(2)|p.P843S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CAGCCGGCCCCGAGAGTGAGC	0.567000														100			68		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248684954	248684954	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:248684954G>A	uc001ien.1	+	0	7	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAATGGAGGAAACCAACAA	0.398000														138			65		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567158	223567158	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:223567158G>A	uc001hoa.2	+	0	444	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	114										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGAGACAGGAACCAAGCCC	0.726000														4			5		0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60073666	60073666	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:60073666C>T	uc001noz.3	+	5	775	c.640C>T	c.(640-642)Cct>Tct	p.P214S	MS4A4A_uc001npa.3_Missense_Mutation_p.P195S|MS4A4A_uc001npc.3_Missense_Mutation_p.P161S	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	214						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTGTTGTACCCCTGGTGGGGT	0.458000														123			66		0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823829	114823829	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:114823829G>A	uc003ibq.1	-	1	2289	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	ARSJ_uc010imu.1_Silent_p.V467V|ARSJ_uc010imv.1_Silent_p.V295V	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	467						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTGAGGGGGGACCCAGTCGC	0.537000														61			54		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123343991	123343991	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:123343991C>T	uc001udj.1	+	22	2373	c.2314C>T	c.(2314-2316)Cta>Tta	p.L772L	HIP1R_uc001udk.1_Silent_p.L37L	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	772	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.S771S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACCCAAGAGCCTAGATGTGCG	0.637000														61			21		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95726484	95726484	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr13:95726484G>A	uc001vmd.4	-	22	3020	c.2901C>T	c.(2899-2901)tcC>tcT	p.S967S	ABCC4_uc010afk.3_Silent_p.S920S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	967	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CCAGAATCAGGGACCCAAAGG	0.418000														23			10		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507968	37507968	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:37507968G>A	uc021ppc.1	+	33	3259	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E1054K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1110						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTTGAAAAAGGAAATTGCCAT	0.289000														36			33		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052244	17052244	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:17052244G>A	uc011awc.2	+	2	1478	c.1382G>A	c.(1381-1383)aGt>aAt	p.S461N	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.S343N	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	469	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTTGCCGGAGTGTTGAATTA	0.418000														169			12		0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34901164	34901164	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr21:34901164G>A	uc002yrz.3	-	7	1114	c.803C>T	c.(802-804)cCa>cTa	p.P268L	GART_uc002yrx.3_Missense_Mutation_p.P268L|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_Missense_Mutation_p.P268L|GART_uc002ysa.2_Missense_Mutation_p.P268L	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.	268	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCTGTATATGGAGTACCCTC	0.368000														54			21		0	0	1	0	0
FAM43B	163933	broad.mit.edu	37	1	20879540	20879540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:20879540C>T	uc001bdj.3	+	0	609	c.74C>T	c.(73-75)cCg>cTg	p.P25L		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	Homo sapiens family with sequence similarity 43, member B (FAM43B), mRNA.	25										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		AGCCTGAGTCCGGGGCTCGCC	0.687000														18			18		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382643	15382643	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:15382643C>T	uc001avm.4	+	4	1064	c.783C>T	c.(781-783)gcC>gcT	p.A261A	KAZN_uc009vog.1_Silent_p.A261A|KAZN_uc001avo.2_Silent_p.A255A|KAZN_uc001avp.2_Silent_p.A167A|KAZN_uc001avq.2_Silent_p.A167A|KAZN_uc001avr.2_Silent_p.A164A	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	261	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATTCCCTCGCCATGCCGGGCG	0.602000														65			28		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948109	5948109	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr20:5948109G>A	uc002wmk.3	+	8	1280	c.903G>A	c.(901-903)caG>caA	p.Q301Q	MCM8_uc002wmi.3_Silent_p.Q301Q|MCM8_uc002wmj.3_Silent_p.Q301Q|MCM8_uc002wml.3_Silent_p.Q301Q|MCM8_uc010gbp.3_Silent_p.Q301Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	301					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CTGATGATCAGAGAGAAGCAG	0.388000														77			49		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10673657	10673657	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:10673657G>A	uc010rcc.1	-	1	526	c.140C>T	c.(139-141)tCc>tTc	p.S47F	MRVI1_uc010rcb.1_Missense_Mutation_p.S38F|MRVI1_uc001miw.2_Missense_Mutation_p.S38F|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.S47F|MRVI1_uc009ygd.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	38					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCCTGCTGGGAGTGGCCACG	0.667000														15			8		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293609	3293609	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:3293609C>T	uc002cun.1	-	9	1918	c.1878G>A	c.(1876-1878)tgG>tgA	p.W626*	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Nonsense_Mutation_p.W206*|MEFV_uc021tby.1_Nonsense_Mutation_p.W129*|MEFV_uc021tbz.1_Nonsense_Mutation_p.W45*|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	626	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCAGCCTCTCCCACTTGTTTC	0.488000														302			78		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161174704	161174704	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:161174704C>T	uc002ubo.3	-	2	730	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RBMS1_uc002ubn.3_Missense_Mutation_p.D96N|RBMS1_uc002ubi.4_Missense_Mutation_p.D96N|RBMS1_uc002ubm.3_Missense_Mutation_p.D63N|RBMS1_uc002ubp.3_Missense_Mutation_p.D96N|RBMS1_uc010fox.2_Missense_Mutation_p.D96N	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	96	RRM 1.				DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GTTGTCTTATCCAAAATTGCC	0.284000														87			19		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24975353	24975353	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:24975353C>T	uc001bjm.3	+	3	462	c.238C>T	c.(238-240)Cca>Tca	p.P80S	SRRM1_uc010oel.2_Missense_Mutation_p.P80S|SRRM1_uc009vrh.1_Missense_Mutation_p.P41S|SRRM1_uc009vri.1_5'UTR|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	80	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTTGCAGAATCCAGACTCCAA	0.373000														92			42		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52258209	52258209	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52258209G>A	uc003ddb.3	-	4	624	c.414C>T	c.(412-414)ggC>ggT	p.G138G	TLR9_uc003dda.2_Silent_p.G41G|TLR9_uc003ddc.1_Silent_p.G26G	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	41					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AGTTCACCAGGCCGTGGGGCT	0.622000														54			27		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74684327	74684327	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr10:74684327G>A	uc001jte.1	+	6	1510	c.1292G>A	c.(1291-1293)aGc>aAc	p.S431N	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	431	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GGCTTGGAAAGCTTGGTGGAG	0.562000														22			39		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21031159	21031159	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:21031159C>T	uc010vbe.2	-	40	5809	c.5809G>A	c.(5809-5811)Gaa>Aaa	p.E1937K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1937					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCACCTAATTCCATTTCCTCC	0.483000														69			60		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:93017372C>T	uc022axs.1	-	5	1076	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	RUNX1T1_uc003yfc.2_Missense_Mutation_p.E211K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E238K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E238K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E249K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E238K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E218K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E238K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	238	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000														81			18		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60938447	60938447	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:60938447G>A	uc001xez.4	-	5	444	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	112										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATATAATCATGATACATTTCT	0.269000														46			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283600	152283600	+	Silent	SNP	C	T	T	rs138551548		TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:152283600C>T	uc001ezu.1	-	2	3798	c.3762G>A	c.(3760-3762)caG>caA	p.Q1254Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1254	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)			ATGATTGTTCCTGTCCCACCT	0.562000									Ichthyosis					354			81		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795810	69795810	+	Splice_Site	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:69795810A>C	uc003hef.2	-	6	1336	c.1305_splice	c.e6-1	p.S435_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	435						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTATAACTGGAAGGGA	0.378000														92			25		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572428	90572428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:90572428C>T	uc003pnr.3	+	6	1196	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Nonsense_Mutation_p.R334*|CASP8AP2_uc011dzz.2_Nonsense_Mutation_p.R334*	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	334					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTCACACAGTCGAGTAGACTC	0.348000														84			79		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473730	52473730	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:52473730T>C	uc003dea.1	-	11	1433	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	478	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AACCACTTCCTCAGGTTCAGC	0.622000														35			19		0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139222	101139222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:101139222G>A	uc011mrl.2	-	6	1527	c.1177C>T	c.(1177-1179)Caa>Taa	p.Q393*	ZMAT1_uc004eim.3_Nonsense_Mutation_p.Q222*|ZMAT1_uc004ein.3_Nonsense_Mutation_p.Q222*|ZMAT1_uc011mrm.2_Nonsense_Mutation_p.Q222*	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	222						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGTTCATCTTGGAAAGAATCA	0.428000														169			89		0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129744415	129744415	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:129744415G>A	uc001qfg.3	-	17	2235	c.2114C>T	c.(2113-2115)cCc>cTc	p.P705L	NFRKB_uc001qfi.3_Missense_Mutation_p.P680L|NFRKB_uc001qfh.3_Missense_Mutation_p.P703L|NFRKB_uc010sbw.1_Missense_Mutation_p.P690L|NFRKB_uc009zcr.3_5'UTR	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	680	Ser-rich.				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TGGGGGCTTGGGTTTTTGCTG	0.522000														122			142		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227140	39227140	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr3:39227140C>T	uc003cjk.2	-	1	4026	c.3797G>A	c.(3796-3798)gGa>gAa	p.G1266E	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_5'UTR|XIRP1_uc021wvz.1_Missense_Mutation_p.G1266E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1266	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGTCAGGTCCTGTCACAGC	0.627000														32			21		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201429	187201429	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr4:187201429G>A	uc003iza.1	+	8	1251	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	306	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.E305K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GAGAAGAACTGGATATTGTTG	0.488000														146			98		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877715	82877715	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:82877715G>T	uc001ozx.4	+	4	2121	c.1776G>T	c.(1774-1776)aaG>aaT	p.K592N	PCF11_uc010rsu.1_Missense_Mutation_p.K592N	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	592					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGTTCCAAGTCTGCCAAAA	0.363000														148			35		9.80977e-26	1.01402e-25	1	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389947	150389947	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:150389947G>A	uc003who.3	+	2	661	c.573G>A	c.(571-573)caG>caA	p.Q191Q		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	191						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGCAATCAGGATGACCAAG	0.453000														191			167		0	0	1	0	0
BC024008	0	broad.mit.edu	37	12	98127082	98127082	+	RNA	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:98127082G>A	uc001tfc.1	-	4		c.975C>T			BC024008_uc001tfd.3_Non-coding_Transcript					Homo sapiens cDNA FLJ25775 fis, clone TST06543.																		AGGCCTTACAGGGTTGCAGCA	0.577000														3			2		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58620639	58620639	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr16:58620639G>A	uc002env.3	-	6	740	c.447C>T	c.(445-447)atC>atT	p.I149I	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.I149I|CNOT1_uc002enx.3_Silent_p.I149I|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	149					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTCTGTTTGATAAACTGGG	0.413000														209			131		0	0	1	0	0
PSORS1C1	170679	broad.mit.edu	37	6	31107451	31107451	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31107451G>A	uc003nsl.2	+	5	490	c.201G>A	c.(199-201)aaG>aaA	p.K67K	PSORS1C1_uc010jsj.2_Silent_p.K16K|PSORS1C1_uc003nsn.2_Non-coding_Transcript|PSORS1C2_uc003nso.4_5'Flank	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	67										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGATATCCAAGGAATTCCATC	0.552000														33			15		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147728	67147728	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:67147728G>A	uc001dcr.3	+	14	1208	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.E98K	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	331	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GACTCCAAGGGAAAAAGTGGT	0.572000														206			123		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085822	92085822	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:92085822G>A	uc001pdj.4	+	0	561	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	182	Cadherin 2.				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)				CCAGGTGACTGCAACAGACGC	0.408000										TCGA Ovarian(4;0.039)				59			41		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620671	131620671	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:131620671T>A	uc010tbm.2	+	22	3012	c.2453T>A	c.(2452-2454)gTt>gAt	p.V818D	GPR133_uc001uit.4_Missense_Mutation_p.V786D|GPR133_uc009zyo.3_Missense_Mutation_p.V68D|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	786					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGTGCTGTGGTTTTCCAGTAC	0.627000														26			14		0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26900586	26900586	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:26900586C>T	uc001bmr.1	+	21	2265	c.2102C>T	c.(2101-2103)aCg>aTg	p.T701M	RPS6KA1_uc010ofe.1_Missense_Mutation_p.T609M|RPS6KA1_uc001bms.1_Missense_Mutation_p.T710M|RPS6KA1_uc009vsl.1_Missense_Mutation_p.T544M	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	701					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGGCTGCCACGTACTCCGCA	0.632000														73			38		0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528275	20528275	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:20528275A>C	uc001vwn.1	+	0	72	c.72A>C	c.(70-72)caA>caC	p.Q24H		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GGGAACTTCAAATTTTCTTCT	0.383000														310			10		0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691548	31691548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:31691548G>A	uc011doc.2	+	1	234	c.194G>A	c.(193-195)tGg>tAg	p.W65*	LY6G6C_uc003nwh.3_5'Flank|LY6G6C_uc010jtd.3_5'Flank|C6orf25_uc021yux.1_Nonsense_Mutation_p.W65*|C6orf25_uc003nwk.3_Nonsense_Mutation_p.W65*|C6orf25_uc011dod.2_Nonsense_Mutation_p.W65*|C6orf25_uc003nwn.3_Nonsense_Mutation_p.W65*|C6orf25_uc011doe.2_Nonsense_Mutation_p.W65*|C6orf25_uc003nwo.3_Nonsense_Mutation_p.W65*	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	65						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CCGATCCTGTGGGCCTCTTCG	0.672000														71			41		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32480404	32480404	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:32480404G>A	uc001rku.3	+	4	1096	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	BICD1_uc001rkv.3_Missense_Mutation_p.E339K|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	339					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTAGAGCGGGAAAAGGCCAT	0.507000														99			64		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19166711	19166711	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:19166711G>A	uc002nld.3	+	7	1699	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	ARMC6_uc002nlc.3_Missense_Mutation_p.A398T|ARMC6_uc010xql.2_Missense_Mutation_p.A330T|ARMC6_uc010xqm.2_Missense_Mutation_p.A423T	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	423							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGCCATGAAGGCACACCCGCA	0.692000														28			21		0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85628916	85628916	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:85628916A>C	uc010fgi.1	-	2	265	c.188T>G	c.(187-189)cTg>cGg	p.L63R	CAPG_uc002spm.1_Missense_Mutation_p.L63R|CAPG_uc002spl.1_Missense_Mutation_p.L63R|CAPG_uc010fgj.1_5'Flank	NM_001747	NP_001738	P40121	CAPG_HUMAN	Homo sapiens capping protein (actin filament), gelsolin-like (CAPG), transcript variant 1, mRNA.	63					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						ACCTATCCACAGGTGCAGATG	0.617000														82			48		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49176937	49176937	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:49176937G>A	uc001rsh.4	-	0	941	c.281C>T	c.(280-282)aCc>aTc	p.T94I	ADCY6_uc001rsi.4_Missense_Mutation_p.T94I|ADCY6_uc001rsj.4_Missense_Mutation_p.T94I	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	94					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	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTCACCTCGGTATCCTCGAA	0.716000														72			29		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60599564	60599564	+	Splice_Site	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:60599564G>A	uc010ddp.3	+	4	422	c.154_splice	c.e4-1	p.T52_splice	TLK2_uc002izx.4_Splice_Site|TLK2_uc002izz.4_Splice_Site_p.T52_splice|TLK2_uc002jaa.4_Splice_Site_p.T52_splice|TLK2_uc010wpd.2_Splice_Site_p.T52_splice	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	52					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GTATTTGACAGACTCCCGAGA	0.323000														40			10		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65233410	65233411	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:65233410_65233411CC>TT	uc001xht.3	-	30	6429_6430	c.6378_6379GG>AA	c.(6376-6381)tgggag>tgAAag	p.2126_2127WE>*K	SPTB_uc001xhr.3_Intron|SPTB_uc001xhs.3_Intron|SPTB_uc001xhu.3_Nonsense_Mutation_p.2126_2127WE>*K|SPTB_uc010aqi.3_Intron	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	2126					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCAGTGACTCCCAGGAACTAG	0.644000														145			100		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876392	35876392	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr5:35876392A>C	uc003jjs.3	+	7	1273	c.1184A>C	c.(1183-1185)aAg>aCg	p.K395T	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	395					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.K395M(2)		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)			GAGAGTGGCAAGAATGGGCCT	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							43			5		0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532236	40532236	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:40532236C>A	uc003xnr.3	-	4	710	c.564G>T	c.(562-564)atG>atT	p.M188I	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	188						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCAGTTCCCCCATATCCAGGG	0.458000														71			41		2.66277e-13	2.7235e-13	1	1	0
ALS2CR8	79800	broad.mit.edu	37	2	203817287	203817287	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:203817287C>T	uc002uzo.2	+	4	592	c.312C>T	c.(310-312)atC>atT	p.I104I	ALS2CR8_uc002uzn.3_Silent_p.I2I|ALS2CR8_uc002uzm.3_Silent_p.I104I|ALS2CR8_uc010zhy.1_Silent_p.I104I|ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Silent_p.I28I|ALS2CR8_uc010zib.1_Silent_p.I28I|ALS2CR8_uc010zic.1_Silent_p.I16I|ALS2CR8_uc002uzp.2_Silent_p.I104I	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	104										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						CCAAGATGATCGTTGCCAGCC	0.358000														49			58		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373294	86373294	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr12:86373294C>T	uc010sum.2	-	5	1441	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	MGAT4C_uc001tal.4_Missense_Mutation_p.D404N|MGAT4C_uc001taj.4_Missense_Mutation_p.D404N|MGAT4C_uc001tak.4_Missense_Mutation_p.D404N|MGAT4C_uc001tai.4_Missense_Mutation_p.D404N|MGAT4C_uc001tah.4_Missense_Mutation_p.D404N	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	404			T -> S (in dbSNP:rs17855890).		post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCAAAATATCATTTTGCCGA	0.328000														75			35		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139189622	139189622	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:139189622T>G	uc003yuy.3	-	10	1242	c.1071A>C	c.(1069-1071)caA>caC	p.Q357H	FAM135B_uc003yux.3_Missense_Mutation_p.Q258H|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	357										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCAAGTTTTTGGTGCTCCA	0.418000										HNSCC(54;0.14)				46			8		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20940837	20940837	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:20940837G>A	uc009yid.3	+	7	953	c.800G>A	c.(799-801)gGa>gAa	p.G267E	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Missense_Mutation_p.G239E|NELL1_uc001mqf.3_Missense_Mutation_p.G239E|NELL1_uc010rdo.2_Missense_Mutation_p.G182E	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	239					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGGTGCAAGGAATAATGGAT	0.303000														105			64		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486474	128486475	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:128486474_128486475GG>AA	uc003vnz.4	+	22	4293_4294	c.4084_4085GG>AA	c.(4084-4086)ggt>AAt	p.G1362N	FLNC_uc003voa.4_Missense_Mutation_p.G1362N	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1362					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTGGAGGGTGGCTTGGTC	0.629000														156			6		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44573360	44573360	+	Silent	SNP	A	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:44573360A>T	uc003tlb.3	-	6	2315	c.2259T>A	c.(2257-2259)tcT>tcA	p.S753S	NPC1L1_uc011kbw.2_Silent_p.S753S|NPC1L1_uc003tlc.3_Silent_p.S753S|NPC1L1_uc003tld.3_Intron	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	753	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGATGGCCTCAGAGAGGCTGC	0.647000														64			15		0	0	1	0	0
AK307233	0	broad.mit.edu	37	X	153626626	153626626	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chrX:153626626G>A	uc010nuv.2	-	0	553	c.237C>T	c.(235-237)gtC>gtT	p.V79V	RPL10_uc004fkm.2_5'UTR|RPL10_uc004fko.2_5'UTR|RPL10_uc004fkn.1_5'Flank|RPL10_uc004fkq.1_5'Flank|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank					Homo sapiens cDNA, FLJ97181.																		CATGACGTCTGACAGAGCGTC	0.637000											OREG0003599	type=REGULATORY REGION|Gene=RPL10|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		1			10		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10388868	10388868	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr8:10388868G>A	uc003wta.3	+	2	451	c.411G>A	c.(409-411)aaG>aaA	p.K137K	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Silent_p.K137K|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	137	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGAAATAAAGGAGGTCGCCA	0.522000														151			47		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238898	48238898	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr11:48238898C>T	uc010rhs.2	+	0	537	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTGTGACCTCCAGCCTTTAT	0.478000														136			70		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606463	48606463	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr17:48606463G>A	uc010wmr.2	+	17	2929	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	886					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TTCTTTGGAAGACCCTACCCC	0.527000														73			13		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772108	143772108	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:143772108C>T	uc011ktx.2	+	0	796	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTATGAGAGCCCCAAGGAGCA	0.478000														352			247		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475351	50475351	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:50475351C>T	uc010ybk.1	+	2	382	c.276C>T	c.(274-276)tcC>tcT	p.S92S	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						TCAGCTTCTCCGTGCACTGTG	0.672000														50			21		0	0	1	0	0
MRPS33	51650	broad.mit.edu	37	7	140710239	140710239	+	Silent	SNP	G	A	A			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr7:140710239G>A	uc003vwd.4	-	1	351	c.195C>T	c.(193-195)ctC>ctT	p.L65L	MRPS33_uc003vwe.4_Silent_p.L65L	NM_016071	NP_444263	Q9Y291	RT33_HUMAN	Homo sapiens mitochondrial ribosomal protein S33 (MRPS33), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	65					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					CAAGAAATCGGAGCGTCTGCA	0.413000														142			125		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933552	44933552	+	Silent	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:44933552C>T	uc002oze.1	-	5	1838	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	ZNF229_uc010ejk.1_Silent_p.K122K|ZNF229_uc010ejl.1_Silent_p.K462K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTGAATCCCTTTCCACACT	0.552000														39			38		0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910346	13910346	+	Missense_Mutation	SNP	C	T	T	rs113350533	byFrequency	TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:13910346C>T	uc001avd.3	+	0	95	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	PDPN_uc001avc.3_Missense_Mutation_p.R16W|PDPN_uc009vob.3_5'Flank|PDPN_uc009voc.3_5'Flank|PDPN_uc001ave.3_5'Flank|PDPN_uc001avf.3_5'Flank	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GTTTGCTGTCCGGCTGCCTAG	0.687000														76			4		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873662	189873662	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr2:189873662C>T	uc002uqj.1	+	47	3655	c.3538C>T	c.(3538-3540)Cac>Tac	p.H1180Y		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1180	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTCCCCAGGCCACCCAGGGCA	0.532000														89			92		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969463	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr1:240969462_240969463CG>AT	uc001hyt.2	-	7	796_797	c.742_743CG>AT	c.(742-744)cga>ATa	p.R248I	RGS7_uc010pyh.2_Missense_Mutation_p.R390I|RGS7_uc010pyj.1_Missense_Mutation_p.R332I|RGS7_uc001hyu.2_Missense_Mutation_p.R416I|RGS7_uc009xgn.1_Missense_Mutation_p.R363I|RGS7_uc001hyv.2_Missense_Mutation_p.R416I|RGS7_uc001hyw.2_Missense_Mutation_p.R416I	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	416					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)			AAATGTGTATCGTCCAGGTTCC	0.455000														99			46		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1083051	1083051	+	Silent	SNP	G	T	T			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr19:1083051G>T	uc002lqz.1	+	19	2961	c.2730G>T	c.(2728-2730)ctG>ctT	p.L910L	HMHA1_uc010xgd.1_Silent_p.L926L|HMHA1_uc010xge.1_Silent_p.L778L|HMHA1_uc002lra.1_Silent_p.L750L|HMHA1_uc002lrb.1_Silent_p.L793L|HMHA1_uc002lrc.1_Silent_p.L545L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	910	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		AGTACCTGCTGCGTCACCTAC	0.726000														5			2		1	1	1	1	0
MAN1A1	4121	broad.mit.edu	37	6	119628120	119628126	+	Frame_Shift_Del	DEL	GCATAAC	-	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr6:119628120_119628126delGCATAAC	uc003pym.1	-	2	1077_1083	c.635_641delGTTATGC	c.(634-642)ggttatgccfs	p.G212fs	MAN1A1_uc010kei.2_Frame_Shift_Del_p.G235fs	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	212					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TAATCCCCAGGCATAACCTTTATAATT	0.314													---	134	---	---	65	---					
BAZ1A	11177	broad.mit.edu	37	14	35254990	35254995	+	In_Frame_Del	DEL	CAAATC	-	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr14:35254990_35254995delCAAATC	uc001wsk.3	-	13	2387_2392	c.1819_1824delGATTTG	c.(1819-1824)gatttgdel	p.DL607del	BAZ1A_uc001wsl.3_In_Frame_Del_p.DL575del	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	607					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TACCTGGTGTCAAATCATACACTGAG	0.417													---	97	---	---	49	---					
LMF2	91289	broad.mit.edu	37	22	50946063	50946063	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A3XC-01A-11D-A23B-08	TCGA-EB-A3XC-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71cb897a-7ed6-4131-9bf0-b994d6d37acf	76bd77d8-7040-4a70-8568-d78be4df6685	g.chr22:50946063delG	uc003blp.2	-	0	73	c.42delC	c.(40-42)ggcfs	p.G14fs	LMF2_uc003blo.2_5'UTR|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	14						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGGCCGCCACGCCCTGGAGGA	0.721													---	6	---	---	4	---