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
LY9	4063	broad.mit.edu	37	1	160766021	160766021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:160766021C>T	uc001fwu.3	+	0	94	c.44C>T	c.(43-45)cCt>cTt	p.P15L	LY9_uc001fwt.3_Missense_Mutation_p.P15L|LY9_uc010pjs.1_Missense_Mutation_p.P15L|LY9_uc001fwv.3_Missense_Mutation_p.P15L|LY9_uc001fww.3_Missense_Mutation_p.P15L	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	15					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)			GCTCCTGGGCCTTTCTCCAGT	0.493000														42			37		0	0	0.00058488	0	0
GABRR2	2570	broad.mit.edu	37	6	90024780	90024780	+	Silent	SNP	G	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:90024780G>T	uc003pnb.2	-	0	188	c.180C>A	c.(178-180)ccC>ccA	p.P60P		NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	60					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ACCTTGGCTTGGGCATTTCCA	0.512000														318			9		0.000442599	0.00928309	0.000442599	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870105	51870105	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr20:51870105C>T	uc002xwo.3	+	1	995	c.108C>T	c.(106-108)agC>agT	p.S36S	TSHZ2_uc021wex.1_Silent_p.S33S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S36S(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			aggaggaCAGCGGTTCAGTAG	0.527000														4			13		0	0	0.000151284	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		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.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(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)	TCGAGATTTCACTGTAGCTAG	0.368000	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)	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					46			32		0	0	0.000491102	0	0
FSTL5	56884	broad.mit.edu	37	4	162459387	162459387	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:162459387C>T	uc003iqh.3	-	9	1679	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	FSTL5_uc003iqi.3_Missense_Mutation_p.A414T|FSTL5_uc010iqv.3_Missense_Mutation_p.A414T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	415	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTCTTTGCGATACAAGTG	0.423000														93			55		0	0	0.000147903	0	0
OR2G6	391211	broad.mit.edu	37	1	248685628	248685628	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:248685628G>A	uc001ien.1	+	0	681	c.681G>A	c.(679-681)agG>agA	p.R227R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	227					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)			CTGTGTTAAGGATAAAATCAG	0.463000														48			67		0	0	0.000147903	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795553	17795553	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:17795553G>A	uc003zna.3	+	8	1159	c.871G>A	c.(871-873)Gat>Aat	p.D291N	SH3GL2_uc011lmy.2_Missense_Mutation_p.D244N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	291	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGTCCAAATGGATCAGCCCTG	0.473000														11			15		0	0	9.7654e-05	0	0
LONRF2	164832	broad.mit.edu	37	2	100903486	100903486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:100903486C>T	uc002tal.4	-	10	2600	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	654	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACAGAATCGTGGAGAGCG	0.478000														2			12		0	0	6.40141e-05	0	0
TCHH	7062	broad.mit.edu	37	1	152082200	152082200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:152082200C>T	uc009wne.1	-	2	3765	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	TCHH_uc001ezp.2_Missense_Mutation_p.E1165K	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1165	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCCAGCTCCTGGCGCCTT	0.612000														12			5		0	0	0.000602214	0	0
ATP2A3	489	broad.mit.edu	37	17	3844872	3844872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:3844872G>A	uc002fwy.2	-	12	1795	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	ATP2A3_uc002fwz.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxa.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxb.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxc.2_Missense_Mutation_p.S541F|ATP2A3_uc002fxd.2_Missense_Mutation_p.S541F|ATP2A3_uc002fwx.2_Missense_Mutation_p.S541F	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	541					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CTGCTCCCTGGAGGTGGGGGT	0.682000														19			25		0	0	0.00047179	0	0
FAM47B	170062	broad.mit.edu	37	X	34961618	34961618	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chrX:34961618C>T	uc004ddi.2	+	0	706	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	224	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCAGTCTCCGCCCAGAGCC	0.657000														5			18		0	0	0.000566183	0	0
RHPN2	85415	broad.mit.edu	37	19	33493205	33493205	+	Missense_Mutation	SNP	G	C	C	rs150626917	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:33493205G>C	uc002nuf.3	-	8	1119	c.1053C>G	c.(1051-1053)caC>caG	p.H351Q	RHPN2_uc010xro.2_Missense_Mutation_p.H200Q|RHPN2_uc002nue.3_Missense_Mutation_p.H81Q	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	351	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGCCGCGTAGTGGTGGGCCT	0.632000														39			4		0	0	0.000157383	0	0
TICAM1	148022	broad.mit.edu	37	19	4817244	4817244	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:4817244G>A	uc002mbi.3	-	1	1397	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	TICAM1_uc021unj.1_Silent_p.F382F	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	382					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGAAGGGAACAGGGAGG	0.572000														37			15		0	0	0.000566183	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76501288	76501288	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:76501288C>T	uc002fex.1	+	8	1671	c.1532C>T	c.(1531-1533)cCa>cTa	p.P511L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P507L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P372L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P435L|CNTNAP4_uc002few.2_Missense_Mutation_p.P483L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	508	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S510Y(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTAAAAGTCCACTTGGTGGA	0.418000														14			48		0	0	0.000147903	0	0
SPINT2	10653	broad.mit.edu	37	19	38782532	38782532	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:38782532C>T	uc002ohr.2	+	6	1080	c.645C>T	c.(643-645)gcC>gcT	p.A215A	SPINT2_uc002ohs.2_Silent_p.A158A	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	215					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTGGGAGCCTCCATGGTCT	0.632000														11			5		0	0	0.000602214	0	0
TMEM161B	153396	broad.mit.edu	37	5	87498782	87498782	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:87498782G>C	uc003kjc.3	-	8	1036	c.911C>G	c.(910-912)cCt>cGt	p.P304R	TMEM161B_uc011cty.2_Missense_Mutation_p.P293R|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Missense_Mutation_p.P171R|TMEM161B_uc011ctx.2_Missense_Mutation_p.P122R	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	304						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TACTTACAAAGGGATACTTTC	0.368000														76			44		0	0	0.000147903	0	0
CACNA1B	774	broad.mit.edu	37	9	140952241	140952241	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:140952241G>A	uc004cog.3	+	26	4171	c.4026G>A	c.(4024-4026)aaG>aaA	p.K1342K	CACNA1B_uc022bqn.1_Silent_p.K1342K|CACNA1B_uc011mfd.2_Silent_p.K943K|CACNA1B_uc004coi.3_Silent_p.K556K	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1342					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCAGTGGAAGAAATACGACT	0.512000														4			10		0	0	3.86212e-05	0	0
ZNF385A	25946	broad.mit.edu	37	12	54764795	54764795	+	Silent	SNP	C	T	T	rs143375749	byFrequency	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:54764795C>T	uc001sfy.3	-	5	805	c.750G>A	c.(748-750)ggG>ggA	p.G250G	ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Silent_p.G230G|ZNF385A_uc010sov.1_Silent_p.G149G|ZNF385A_uc001sfx.1_Silent_p.G230G|ZNF385A_uc001sfz.3_Silent_p.G169G	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	Homo sapiens zinc finger protein 385A (ZNF385A), transcript variant 1, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTCTGGTTCCCCCGGGGTGG	0.597000														77			50		0	0	0.000147903	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166278	32166279	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:32166278_32166279CC>AA	uc003obb.3	-	25	4814_4815	c.4675_4676GG>TT	c.(4675-4677)ggg>TTg	p.G1559L	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.G219L|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1559					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGAGCGCCCCACAGCCACCA	0.579000														276			11		0	0	6.4e-05	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991310	35991310	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:35991310G>A	uc003jjv.2	-	0	226	c.33C>T	c.(31-33)gcC>gcT	p.A11A	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.A11A|UGT3A1_uc011cor.2_Silent_p.A11A|UGT3A1_uc003jjy.2_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	11						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAGAAGGAAGGCCACTAGAA	0.602000														42			20		0	0	0.000175454	0	0
SCN5A	6331	broad.mit.edu	37	3	38628959	38628959	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:38628959T>G	uc021wvo.1	-	13	2420	c.2368A>C	c.(2368-2370)Atc>Ctc	p.I790L	SCN5A_uc021wvk.1_Missense_Mutation_p.I790L|SCN5A_uc021wvl.1_Missense_Mutation_p.I790L|SCN5A_uc021wvm.1_Missense_Mutation_p.I790L|SCN5A_uc021wvn.1_Missense_Mutation_p.I790L|SCN5A_uc021wvp.1_Missense_Mutation_p.I790L|SCN5A_uc021wvq.1_Missense_Mutation_p.I790L|SCN5A_uc021wvr.1_Missense_Mutation_p.I790L|SCN5A_uc021wvs.1_Missense_Mutation_p.I790L|SCN5A_uc021wvt.1_Missense_Mutation_p.I790L|SCN5A_uc021wvu.1_Missense_Mutation_p.I790L|SCN5A_uc021wvv.1_Missense_Mutation_p.I790L|SCN5A_uc021wvj.1_Missense_Mutation_p.I656L|SCN5A_uc021wvi.1_Missense_Mutation_p.I656L|SCN5A_uc021wvw.1_Missense_Mutation_p.I401L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	790					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCTAAGGATGACGATGATG	0.567000														16			9		0	0	0.000274275	0	0
ENPP7	339221	broad.mit.edu	37	17	77708929	77708929	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:77708929G>C	uc002jxa.3	+	2	507	c.487G>C	c.(487-489)Gca>Cca	p.A163P		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	163					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGAAGGCATCGCACACAACTA	0.587000														32			18		0	0	0.000132079	0	0
FBXO42	54455	broad.mit.edu	37	1	16577944	16577944	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:16577944G>A	uc001ayg.3	-	9	1591	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	FBXO42_uc001ayf.3_Missense_Mutation_p.P366S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	459										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GCCTGTACAGGACTGTCCAAA	0.542000														11			14		0	0	0.000308642	0	0
SP140	11262	broad.mit.edu	37	2	231157400	231157400	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:231157400G>T	uc002vql.3	+	19	1980	c.1865G>T	c.(1864-1866)tGg>tTg	p.W622L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.W508L|SP140_uc002vqm.3_Missense_Mutation_p.W562L|SP140_uc010fxl.3_Missense_Mutation_p.W595L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	622	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATGGAAAATGGTTCACCCCC	0.517000														23			48		3.70713e-34	8.3153e-33	0.000147903	1	0
DACH1	1602	broad.mit.edu	37	13	72063214	72063214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:72063214C>T	uc021rkj.1	-	6	2066	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	DACH1_uc021rkk.1_Missense_Mutation_p.G400E|DACH1_uc021rkl.1_Missense_Mutation_p.G346E	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	598					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGTGGTTGTCCATGCCCAGT	0.448000														141			93		0	0	0.000147903	0	0
TG	7038	broad.mit.edu	37	8	133961052	133961052	+	Silent	SNP	C	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:133961052C>A	uc003ytw.3	+	26	5306	c.5265C>A	c.(5263-5265)ccC>ccA	p.P1755P	TG_uc010mdw.3_Silent_p.P514P|TG_uc011ljb.2_Silent_p.P124P	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1755					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.P1755R(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAGCTCACCCAGTGTCCTGC	0.527000														193			7		0.000274275	0.00582835	0.000274275	1	0
IQCF3	401067	broad.mit.edu	37	3	51864457	51864457	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:51864457G>A	uc021wyy.1	+	6	893	c.105G>A	c.(103-105)aaG>aaA	p.K35K	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Silent_p.K35K	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGTGAAGGCAGCTGGGC	0.572000														37			12		0	0	0.000151284	0	0
KIAA0182	23199	broad.mit.edu	37	16	85697143	85697143	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:85697143A>G	uc002fix.3	+	10	2641	c.2567A>G	c.(2566-2568)aAc>aGc	p.N856S	KIAA0182_uc002fiw.3_Missense_Mutation_p.N752S|KIAA0182_uc002fiy.3_Missense_Mutation_p.N783S|KIAA0182_uc002fiz.3_Missense_Mutation_p.N36S|KIAA0182_uc010cho.3_Missense_Mutation_p.N36S	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	856							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GAGATGAACAACAGTCCCAAC	0.557000														44			4		0	0	0.00024832	0	0
OR10A4	283297	broad.mit.edu	37	11	6898649	6898649	+	Silent	SNP	C	T	T	rs146451877		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:6898649C>T	uc010rat.2	+	0	794	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCACTGCCATCCTCACGTATT	0.527000														17			50		0	0	0.000147903	0	0
PRDM1	639	broad.mit.edu	37	6	106554799	106554799	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:106554799G>A	uc003prd.2	+	6	2150	c.1916G>A	c.(1915-1917)aGa>aAa	p.R639K	PRDM1_uc003pre.3_Missense_Mutation_p.R505K	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	639					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCCACAAGAGATTTAGCAGC	0.542000			"""D, N, Mis, F, S"""		DLBCL									41			23		0	0	9.22233e-05	0	0
RBMY1A3P	286557	broad.mit.edu	37	Y	9160470	9160470	+	RNA	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chrY:9160470C>T	uc004frl.1	-	0		c.14G>A								Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA.																		GATGATCTGCCTCTACCATTG	0.333000														66			7		0	0	8.12818e-05	0	0
ATRNL1	26033	broad.mit.edu	37	10	117001410	117001410	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:117001410T>G	uc001lcg.3	+	9	1969	c.1583T>G	c.(1582-1584)cTt>cGt	p.L528R		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	528						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAGCTGTTCTTATCAATGGA	0.358000														26			26		0	0	0.000279167	0	0
ROS1	6098	broad.mit.edu	37	6	117714445	117714445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:117714445C>T	uc003pxp.1	-	10	1403	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	402					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGAGTAATTTCCTCGATGTTT	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									306			154		0	0	0.000147903	0	0
S100A9	6280	broad.mit.edu	37	1	153333147	153333147	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:153333147G>A	uc001fbq.3	+	2	221	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	60	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGGTCATAGAACACATCAT	0.542000														48			21		0	0	0.000375601	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37488708	37488708	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:37488708G>A	uc021ppc.1	+	29	2701	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D868N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	924						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						AAATTCTTGGGATTCTGAGGT	0.299000														15			12		0	0	0.000566183	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379788	145379788	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:145379788C>T	uc003lnt.3	+	2	784	c.546C>T	c.(544-546)atC>atT	p.I182I	SH3RF2_uc011dbl.1_Silent_p.I182I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	182	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTCATCAAGCAGCTGC	0.567000														27			12		0	0	0.000151284	0	0
FAM194A	131831	broad.mit.edu	37	3	150396229	150396229	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:150396229G>A	uc003eyg.3	-	9	1281	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FAM194A_uc003eyh.3_Silent_p.I262I	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	408										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CACAACAAATGATAGACATGT	0.264000														54			37		0	0	0.000437636	0	0
USH2A	7399	broad.mit.edu	37	1	216371818	216371818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:216371818G>A	uc001hku.1	-	17	4307	c.3920C>T	c.(3919-3921)tCa>tTa	p.S1307L	USH2A_uc001hkv.3_Missense_Mutation_p.S1307L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1307	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTACAAATGAATGAGGACT	0.398000										HNSCC(13;0.011)				27			11		0	0	6.40141e-05	0	0
IL5RA	3568	broad.mit.edu	37	3	3139902	3139902	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:3139902C>T	uc011ask.2	-	6	1084	c.440G>A	c.(439-441)aGg>aAg	p.R147K	IL5RA_uc010hbq.3_Missense_Mutation_p.R147K|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.R147K|IL5RA_uc011asl.2_Missense_Mutation_p.R147K|IL5RA_uc011asm.1_Missense_Mutation_p.R147K|IL5RA_uc010hbt.2_Missense_Mutation_p.R147K|IL5RA_uc011asn.1_Missense_Mutation_p.R147K|IL5RA_uc010hbu.2_Missense_Mutation_p.R147K	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	147					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTGGTATGACCTTAAACGTGA	0.413000														41			21		0	0	0.000295444	0	0
OR14I1	401994	broad.mit.edu	37	1	248845069	248845069	+	Silent	SNP	G	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:248845069G>T	uc001ieu.1	-	0	537	c.537C>A	c.(535-537)atC>atA	p.I179I		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ACACATGAGGGATGTCACGGA	0.512000														22			9		2.17888e-05	0.00047876	0.000442599	1	0
NBPF10	100132406	broad.mit.edu	37	1	145360584	145360584	+	Missense_Mutation	SNP	G	A	A	rs78186669		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:145360584G>A	uc021oul.1	+	73	9244	c.9209G>A	c.(9208-9210)gGg>gAg	p.G3070E	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3070										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.483000														21			4		0	0	0.000602214	0	0
FANCA	2175	broad.mit.edu	37	16	89849495	89849495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:89849495G>A	uc002fou.1	-	15	1528	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	FANCA_uc010vpn.1_Missense_Mutation_p.P496S	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	496					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACCAGGGGTGGGTGGAGAATG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					10			19		0	0	0.000175454	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178617	17178617	+	RNA	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:17178617G>A	uc002zls.1	+	2		c.699G>A								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		TCTTGCTGATGATTTGGAACA	0.622000														20			37		0	0	0.000437636	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750451	41750451	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:41750451G>A	uc003gwf.4	-	0	537	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	59					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCGGCGTGAGGGAAGGGCAGC	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					26			14		0	0	0.000308642	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34791085	34791086	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:34791085_34791086CC>AA	uc003oju.4	+	3	532_533	c.298_299CC>AA	c.(298-300)ccc>AAc	p.P100N	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	100										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCTCGGCCCCCCAATGGACAG	0.436000														477			12		0	0	6.4e-05	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671550	39671550	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr21:39671550G>C	uc021wjc.1	+	0	367	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	KCNJ15_uc002ywv.3_Missense_Mutation_p.E123Q|KCNJ15_uc002yww.3_Missense_Mutation_p.E123Q|KCNJ15_uc002ywx.3_Missense_Mutation_p.E123Q	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	123					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTTTTCCCTGGAATCCCAGAC	0.493000														104			5		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13823435	13823435	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:13823435G>A	uc003jfd.2	-	39	6666	c.6624C>T	c.(6622-6624)ctC>ctT	p.L2208L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2208					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2207Y(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTGGAAAGAGATCTTCAA	0.383000									Kartagener syndrome					89			56		0	0	0.000147903	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72339511	72339511	+	RNA	SNP	A	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:72339511A>C	uc010lal.1	-	0		c.145T>G								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCACCACTCCATCTTCCTTTT	0.582000														26			4		0	0	0.00024832	0	0
OSBP2	23762	broad.mit.edu	37	22	31289464	31289464	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:31289464G>A	uc003aiy.1	+	9	2109	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	OSBP2_uc011ala.1_Missense_Mutation_p.E503K|OSBP2_uc010gwc.1_Missense_Mutation_p.E496K|OSBP2_uc011alb.1_Missense_Mutation_p.E620K|OSBP2_uc003aiz.1_Missense_Mutation_p.E668K|OSBP2_uc003aja.1_Missense_Mutation_p.E302K|OSBP2_uc011alc.2_Missense_Mutation_p.E411K|OSBP2_uc011ald.1_Missense_Mutation_p.E213K|OSBP2_uc010gwd.1_Missense_Mutation_p.E214K	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	669					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CATCCACTTAGAATTCCAGGC	0.587000														49			24		0	0	0.000117367	0	0
AFP	174	broad.mit.edu	37	4	74310728	74310728	+	Silent	SNP	T	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:74310728T>C	uc003hgz.1	+	6	779	c.732T>C	c.(730-732)agT>agC	p.S244S	AFP_uc011cbg.1_Silent_p.S18S	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	244	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAACTGAGTCAGAAGTTTA	0.333000									Alpha-Fetoprotein, Hereditary Persistence of					32			16		0	0	0.000308642	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361499	70361499	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:70361499C>T	uc003hek.4	-	0	128	c.81G>A	c.(79-81)ctG>ctA	p.L27L	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Silent_p.L27L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	27					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L27L(2)|p.L27M(1)		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						TGGGCCACACCAGCACCTTTC	0.458000														84			42		0	0	0.000147903	0	0
MYT1L	23040	broad.mit.edu	37	2	1906931	1906931	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:1906931G>A	uc002qxe.3	-	13	2780	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y	MYT1L_uc002qxd.3_Silent_p.Y649Y|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	651					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATGGTTGTCGTAACTGTTGT	0.478000														71			7		0	0	8.12818e-05	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														40			4		0	0	0.00024832	0	0
GBP5	115362	broad.mit.edu	37	1	89732246	89732246	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:89732246G>A	uc001dnc.3	-	6	1188	c.651C>T	c.(649-651)ttC>ttT	p.F217F	GBP5_uc001dnd.3_Silent_p.F217F|GBP5_uc001dne.1_Silent_p.F217F	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	217						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGGGCAAATTGAAATTTTGAA	0.328000														62			35		0	0	0.000191422	0	0
ETAA1	54465	broad.mit.edu	37	2	67630986	67630986	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:67630986C>T	uc002sdz.1	+	4	1311	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	391						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTAGTGAACCTTTTGCTATG	0.348000														100			5		0	0	0.000602214	0	0
LSR	51599	broad.mit.edu	37	19	35741440	35741440	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:35741440G>A	uc002nyl.3	+	1	699	c.476G>A	c.(475-477)gGc>gAc	p.G159D	LSR_uc010xsr.2_Missense_Mutation_p.G159D|LSR_uc002nym.3_Missense_Mutation_p.G159D|LSR_uc002nyn.3_Missense_Mutation_p.G159D|LSR_uc002nyo.3_Missense_Mutation_p.G159D|LSR_uc002nyp.3_Missense_Mutation_p.G122D	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	159	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGGAACCCAGGCTACAACCCC	0.637000														19			19		0	0	0.000132079	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744314	61744314	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:61744314C>T	uc002jbg.3	+	5	715	c.396C>T	c.(394-396)ccC>ccT	p.P132P	MAP3K3_uc002jbe.3_Silent_p.P163P|MAP3K3_uc002jbf.3_Silent_p.P163P|MAP3K3_uc002jbh.3_Silent_p.P163P|MAP3K3_uc010wpo.2_Silent_p.P47P|MAP3K3_uc010wpp.2_Silent_p.P132P	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	132					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTTCCTCTCCCCACTCTGGGG	0.527000														50			22		0	0	0.000375601	0	0
OR4F6	390648	broad.mit.edu	37	15	102346244	102346245	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:102346244_102346245GG>TT	uc010utr.2	+	0	322_323	c.322_323GG>TT	c.(322-324)ggg>TTg	p.G108L		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108W(2)|p.V107F(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATGCAGTTGGGGGAACTGAG	0.480000														512			15		0	0	6.4e-05	0	0
SLC9C2	284525	broad.mit.edu	37	1	173550993	173550993	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:173550993G>A	uc001giz.2	-	6	1218	c.795C>T	c.(793-795)ttC>ttT	p.F265F	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	265					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TACCAATATAGAAAGTCATGT	0.318000														25			13		0	0	0.000422831	0	0
NEK5	341676	broad.mit.edu	37	13	52639643	52639643	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:52639643G>A	uc001vge.3	-	21	2167	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	676							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		GGGGCAGGTGGAGGTGATGTC	0.592000														42			31		0	0	0.000227799	0	0
CASR	846	broad.mit.edu	37	3	121973101	121973101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:121973101C>T	uc003eew.4	+	1	503	c.65C>T	c.(64-66)cCa>cTa	p.P22L	CASR_uc003eev.4_Missense_Mutation_p.P22L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	22					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCTACGGGCCAGACCAGCGA	0.537000														64			46		0	0	0.000147903	0	0
DNAH17	8632	broad.mit.edu	37	17	76510915	76510915	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:76510915C>T	uc010dhp.2	-	25	4179	c.4054G>A	c.(4054-4056)Gag>Aag	p.E1352K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTGCAGCTCGCTCACGGCA	0.622000														32			24		0	0	0.000375601	0	0
ZP2	7783	broad.mit.edu	37	16	21209114	21209114	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:21209114C>T	uc010bwn.1	-	17	2240	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	ZP2_uc002dii.2_Missense_Mutation_p.E690K	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	690					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCCCTGTTTCACTCCTACTC	0.468000														174			58		0	0	0.000147903	0	0
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:13365981G>A	uc002mwy.3	-	28	4919	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_uc002mwx.3_Silent_p.F267F|CACNA1A_uc010dzc.2_Silent_p.F1087F|CACNA1A_uc010xnd.2_Silent_p.F1564F|CACNA1A_uc021ups.1_Silent_p.F1561F|CACNA1A_uc010xne.2_Silent_p.F1564F|CACNA1A_uc010dze.2_Silent_p.F1561F|CACNA1A_uc021upt.1_Silent_p.F1562F|CACNA1A_uc002mwv.3_Silent_p.F78F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1562					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.F1562F(3)		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)	GAGACACCACGAACTGCCACA	0.587000														18			9		0	0	3.86212e-05	0	0
LOC642846	642846	broad.mit.edu	37	12	9464178	9464178	+	RNA	SNP	G	A	A	rs112191067	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:9464178G>A	uc001qvp.2	+	12		c.1145G>A			LOC642846_uc010sgp.1_Intron					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		CACACCAGGTGGAGCAGGTGC	0.592000														75			20		0	0	0.000586117	0	0
PTK2	5747	broad.mit.edu	37	8	141727723	141727723	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:141727723C>T	uc003yvu.3	-	22	2426	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R	PTK2_uc011ljp.2_Missense_Mutation_p.G14R|PTK2_uc003yvo.3_Missense_Mutation_p.G334R|PTK2_uc011ljq.2_Missense_Mutation_p.G401R|PTK2_uc003yvp.3_Missense_Mutation_p.G374R|PTK2_uc003yvq.3_Missense_Mutation_p.G232R|PTK2_uc003yvr.3_Missense_Mutation_p.G646R|PTK2_uc003yvs.3_Missense_Mutation_p.G706R|PTK2_uc011ljr.2_Missense_Mutation_p.G706R|PTK2_uc003yvt.3_Missense_Mutation_p.G728R|PTK2_uc003yvv.3_Missense_Mutation_p.G606R	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	706					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCAGACCCTCCGGAGTCCCAG	0.517000														122			5		0	0	8.12818e-05	0	0
UNC79	57578	broad.mit.edu	37	14	94158220	94158220	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:94158220G>A	uc001ybv.1	+	44	7133	c.7050G>A	c.(7048-7050)gcG>gcA	p.A2350A	UNC79_uc001ybs.1_Silent_p.A2328A	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2505						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						GCTTCACGGCGATACTGACAG	0.473000														69			53		0	0	0.000147903	0	0
KCNQ1	3784	broad.mit.edu	37	11	2593264	2593264	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:2593264C>T	uc001lwn.3	+	4	813	c.705C>T	c.(703-705)atC>atT	p.I235I	KCNQ1_uc009ydp.1_Silent_p.I19I|KCNQ1_uc001lwo.3_Silent_p.I108I	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	235					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCCTGCAGATCCTGAGGATGC	0.687000														37			91		0	0	0.000147903	0	0
IL17A	3605	broad.mit.edu	37	6	52052467	52052467	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:52052467G>A	uc003pak.1	+	1	139	c.94G>A	c.(94-96)Gga>Aga	p.G32R		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	32					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACGAAATCCAGGATGCCCAAA	0.493000														199			115		0	0	0.000147903	0	0
SYNE1	23345	broad.mit.edu	37	6	152746629	152746629	+	Silent	SNP	T	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:152746629T>C	uc021zhb.1	-	36	5377	c.5154A>G	c.(5152-5154)caA>caG	p.Q1718Q	SYNE1_uc003qot.4_Silent_p.Q1725Q|SYNE1_uc003qou.4_Silent_p.Q1718Q|SYNE1_uc010kjb.1_Silent_p.Q1701Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1718					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)		ATTCCTTCAATTGCAAAAGTT	0.388000										HNSCC(10;0.0054)				79			30		0	0	0.000227799	0	0
PCSK9	255738	broad.mit.edu	37	1	55525203	55525203	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:55525203G>A	uc001cyf.2	+	9	1910	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	516					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACGCTTTTGGGGGTGAGGGTG	0.597000														92			38		0	0	0.000228196	0	0
LRP5	4041	broad.mit.edu	37	11	68192666	68192666	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:68192666C>T	uc001ont.3	+	14	3408	c.3333C>T	c.(3331-3333)ctC>ctT	p.L1111L	LRP5_uc009ysg.3_Silent_p.L521L	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1111	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCACCGGCCTCATCCGCCCTG	0.637000														6			17		0	0	9.7654e-05	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494476	20494476	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:20494476G>A	uc010bwe.3	+	13	1845	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	ACSM2A_uc002dhf.4_Missense_Mutation_p.A536T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A536T|ACSM2A_uc010vay.2_Missense_Mutation_p.A457T|ACSM2A_uc002dhh.4_Missense_Mutation_p.A166T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	536					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.A536A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTCAGTGACAGCCCCATACAA	0.488000														122			32		0	0	0.000270559	0	0
PTPRD	5789	broad.mit.edu	37	9	8460523	8460523	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:8460523G>A	uc003zkk.3	-	32	4506	c.3763C>T	c.(3763-3765)Ctg>Ttg	p.L1255L	PTPRD_uc003zkp.3_Silent_p.L844L|PTPRD_uc003zkq.3_Silent_p.L844L|PTPRD_uc003zkr.3_Silent_p.L839L|PTPRD_uc003zks.3_Silent_p.L834L|PTPRD_uc022bdj.1_Silent_p.L841L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1255					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1255M(3)|p.L726M(1)|p.L844M(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCGGATCCAGATCCATTGAC	0.438000										TSP Lung(15;0.13)				22			25		0	0	0.000117367	0	0
CHD2	1106	broad.mit.edu	37	15	93492257	93492257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:93492257C>T	uc002bsp.3	+	12	2028	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	CHD2_uc002bsn.3_Nonsense_Mutation_p.R485*|CHD2_uc002bso.1_Nonsense_Mutation_p.R485*|CHD2_uc010urb.2_Nonsense_Mutation_p.R498*	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	485					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTGGAACTTCGAGATTATCA	0.413000														79			120		0	0	0.000147903	0	0
RFX5	5993	broad.mit.edu	37	1	151314838	151314838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:151314838G>A	uc001exv.1	-	10	1889	c.1675C>T	c.(1675-1677)Ccc>Tcc	p.P559S	RFX5_uc001exw.1_Missense_Mutation_p.P559S|RFX5_uc010pcx.1_Missense_Mutation_p.P519S	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	559						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGACCAAGGGAATTTTATCT	0.522000														71			54		0	0	0.000147903	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794354	15794354	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:15794354G>A	uc002nbl.3	+	6	818	c.699G>A	c.(697-699)gaG>gaA	p.E233E		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.V232E(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCCTTGTAGAGAAAAGAAGCC	0.537000														36			27		0	0	0.000147802	0	0
KIAA1324	57535	broad.mit.edu	37	1	109716166	109716167	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:109716166_109716167CC>AA	uc021orb.1	+	5	988_989	c.767_768CC>AA	c.(766-768)ccc>cAA	p.P256Q	KIAA1324_uc009wex.2_Missense_Mutation_p.P256Q|KIAA1324_uc010ovg.2_Missense_Mutation_p.P154Q|KIAA1324_uc009wey.3_Missense_Mutation_p.P256Q	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	256					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ACCAAAGTACCCAAGCCTGTGC	0.480000														233			9		0	0	6.4e-05	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191880	5191880	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:5191880C>T	uc003jdl.3	+	7	1428	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	ADAMTS16_uc003jdk.1_Silent_p.T430T|ADAMTS16_uc003jdj.1_Silent_p.T430T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	430	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T430K(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTTCACCATTGCCCATG	0.443000														83			62		0	0	0.000147903	0	0
DSCAM	1826	broad.mit.edu	37	21	41385240	41385240	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr21:41385240C>T	uc002yyq.1	-	32	6212	c.5760G>A	c.(5758-5760)agG>agA	p.R1920R	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.	1920				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				AGCTCAGGTCCCTGCTGGTGC	0.547000														44			22		0	0	9.22233e-05	0	0
FAM47C	442444	broad.mit.edu	37	X	37029045	37029045	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chrX:37029045C>T	uc004ddl.2	+	0	2614	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	854										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACTCCGTGACTTCAAGTGGG	0.443000														16			48		0	0	0.000147903	0	0
STK31	56164	broad.mit.edu	37	7	23809348	23809348	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:23809348C>T	uc003sws.4	+	12	1753	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	STK31_uc003swt.4_Silent_p.V539V|STK31_uc011jze.2_Silent_p.V562V|STK31_uc010kuq.3_Silent_p.V539V	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	562							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.S561I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCAAGTGTCTGCAAAGAGC	0.383000														105			58		0	0	0.000147903	0	0
ANK3	288	broad.mit.edu	37	10	61835300	61835300	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:61835300G>A	uc001jky.3	-	36	5677	c.5339C>T	c.(5338-5340)tCa>tTa	p.S1780L	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1780	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAAACATATGACCTGAGTGG	0.473000														36			47		0	0	0.000147903	0	0
DCAF11	80344	broad.mit.edu	37	14	24587609	24587609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:24587609G>A	uc001wlv.3	+	6	870	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	DCAF11_uc001wlw.3_Missense_Mutation_p.R197Q|DCAF11_uc001wlz.3_Missense_Mutation_p.R97Q|DCAF11_uc001wly.3_Missense_Mutation_p.R153Q|DCAF11_uc010tny.2_Missense_Mutation_p.R64Q|DCAF11_uc001wmc.3_Missense_Mutation_p.R97Q|DCAF11_uc001wmb.4_Missense_Mutation_p.R171Q|DCAF11_uc001wma.4_Missense_Mutation_p.R197Q	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	197						CUL4 RING ubiquitin ligase complex	protein binding										CAGACAATCCGACTCTATGAC	0.493000														120			69		0	0	0.000147903	0	0
CABIN1	23523	broad.mit.edu	37	22	24573553	24573553	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:24573553C>A	uc002zzi.1	+	35	6414	c.6287C>A	c.(6286-6288)cCa>cAa	p.P2096Q	CABIN1_uc021wnc.1_Missense_Mutation_p.P2046Q|CABIN1_uc002zzj.1_Missense_Mutation_p.P2017Q|CABIN1_uc002zzl.2_Missense_Mutation_p.P2096Q|CABIN1_uc010gul.1_Missense_Mutation_p.P34Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2096					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCTCTCCCCCAACAGCTGCC	0.662000														90			6		8.12818e-05	0.00175027	8.12818e-05	1	0
DNAJB11	51726	broad.mit.edu	37	3	186303137	186303137	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:186303137C>T	uc003fqi.3	+	9	1752	c.1017C>T	c.(1015-1017)atC>atT	p.I339I		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	339					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CTTCAGGTATCAAACAGCTAC	0.328000														34			17		0	0	7.07596e-05	0	0
CCAR1	55749	broad.mit.edu	37	10	70502219	70502219	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:70502219C>T	uc001joo.3	+	5	530	c.411C>T	c.(409-411)tcC>tcT	p.S137S	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_5'UTR|CCAR1_uc009xpx.1_Silent_p.S111S|CCAR1_uc001jon.1_Silent_p.S83S|CCAR1_uc010qiz.1_Silent_p.S122S|CCAR1_uc010qja.1_Silent_p.S122S|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	137					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.S137C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CACCAAGGTCCAGTCAACAGC	0.438000														20			32		0	0	0.000409698	0	0
MIR573	693158	broad.mit.edu	37	4	24521913	24521913	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:24521913A>T	uc021xmx.1	-	1		c.1_splice	c.e1-1							Homo sapiens microRNA 573 (MIR573), microRNA.																		AAACCGCTAAAGCAGCCGACA	0.393000														92			47		0	0	0.000147903	0	0
C2CD3	26005	broad.mit.edu	37	11	73753120	73753120	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:73753120G>A	uc001ouu.2	-	28	5866	c.5639C>T	c.(5638-5640)aCc>aTc	p.T1880I	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1880						centrosome		p.Q1879H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGAATGGAGGTTTGGGAGGA	0.493000														17			38		0	0	0.000437636	0	0
GABRP	2568	broad.mit.edu	37	5	170222403	170222403	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:170222403C>T	uc003mau.3	+	4	630	c.432C>T	c.(430-432)tcC>tcT	p.S144S	GABRP_uc011dev.2_Silent_p.S144S	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	144						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S144F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCTCTTCTCCAATGGCACGG	0.552000														31			24		0	0	0.000117367	0	0
C9	735	broad.mit.edu	37	5	39285309	39285309	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:39285309C>T	uc003jlv.4	-	10	1761	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	558					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCTATTTTTCATTGGGGAAC	0.408000														47			35		0	0	0.000374591	0	0
COL3A1	1281	broad.mit.edu	37	2	189849645	189849645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:189849645C>T	uc002uqj.1	+	1	356	c.239C>T	c.(238-240)cCa>cTa	p.P80L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	80	VWFC.				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)	CCAGAAATTCCATTTGGAGAA	0.413000														18			23		0	0	0.000586117	0	0
CD163	9332	broad.mit.edu	37	12	7640410	7640410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:7640410C>T	uc001qsz.3	-	6	1822	c.1694G>A	c.(1693-1695)gGa>gAa	p.G565E	CD163_uc001qta.3_Missense_Mutation_p.G565E|CD163_uc009zfw.2_Missense_Mutation_p.G565E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	565	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G565R(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCTACAAGTTCCTTCTGGGCG	0.498000														49			35		0	0	0.000270559	0	0
PCDH17	27253	broad.mit.edu	37	13	58298998	58298998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:58298998C>T	uc001vhq.1	+	3	3942	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L	PCDH17_uc010aec.1_Missense_Mutation_p.P1016L|PCDH17_uc001vhr.1_Missense_Mutation_p.P106L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1017					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACGTTAAACCTTATTTAAAA	0.478000														44			24		0	0	0.000375601	0	0
OR4A47	403253	broad.mit.edu	37	11	48510479	48510479	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:48510479G>A	uc010rhx.2	+	0	135	c.135G>A	c.(133-135)gtG>gtA	p.V45V		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCATTGTAGTGACCGTAACTG	0.418000														11			23		0	0	0.000117367	0	0
OR2F1	26211	broad.mit.edu	37	7	143657992	143657992	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:143657992G>A	uc003wds.1	+	0	973	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAATTCTCTGGGTTAACATCA	0.428000														32			19		0	0	0.000175454	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183113	200183113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:200183113C>T	uc009wzi.1	+	0	458	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	141					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						TTCCAGGTCTCCTTCCAGCAT	0.602000														32			27		0	0	0.000147802	0	0
KDELC1	79070	broad.mit.edu	37	13	103449154	103449154	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr13:103449154C>T	uc001vpq.4	-	2	772	c.388_splice	c.e2+1	p.G130_splice	KDELC1_uc001vpr.4_Splice_Site|BIVM-ERCC5_uc001vps.3_5'Flank|BIVM-ERCC5_uc010agc.3_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	130						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCAAATTACCTTTTAAAATA	0.269000														21			14		0	0	0.000219431	0	0
HS1BP3	64342	broad.mit.edu	37	2	20840906	20840906	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:20840906T>C	uc002rdw.1	-	2	274	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	HS1BP3_uc002rdx.3_Missense_Mutation_p.Y78C|HS1BP3_uc002rdy.3_Missense_Mutation_p.Y78C	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	78	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTTCTGGTAAAACTCCTC	0.552000														36			37		0	0	0.000509022	0	0
OTX2	5015	broad.mit.edu	37	14	57268611	57268611	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:57268611G>A	uc001xcq.3	-	4	1010	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	OTX2_uc001xcp.3_Missense_Mutation_p.L238F|OTX2_uc021rtm.1_Missense_Mutation_p.L68F|OTX2_uc010aou.3_Missense_Mutation_p.L238F	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	238					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TGGGTGGAAAGAGAAGCTGGG	0.507000														55			31		0	0	0.000109025	0	0
PM20D1	148811	broad.mit.edu	37	1	205814680	205814680	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:205814680G>A	uc001hdj.3	-	2	338	c.262C>T	c.(262-264)Cct>Tct	p.P88S	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	88						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACCACTGTAGGAAAGACTAGA	0.463000														35			16		0	0	0.000308642	0	0
SYT15	83849	broad.mit.edu	37	10	46969424	46969424	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr10:46969424T>A	uc001jea.3	-	1	190	c.37A>T	c.(37-39)Atc>Ttc	p.I13F	SYT15_uc001jdz.2_Missense_Mutation_p.I13F|SYT15_uc001jeb.3_Intron|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	13						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCCCCCCGATGGTGCCCCCA	0.637000														2			7		0	0	0.000157383	0	0
NLRP7	199713	broad.mit.edu	37	19	55450410	55450410	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:55450410C>T	uc002qih.4	-	3	1853	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	NLRP7_uc010esk.3_Missense_Mutation_p.E593K|NLRP7_uc002qig.4_Missense_Mutation_p.E593K|NLRP7_uc002qii.4_Missense_Mutation_p.E593K|NLRP7_uc010esl.3_Missense_Mutation_p.E621K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	593							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ATAGAAATTTCCTTGAACGGG	0.493000														34			20		0	0	0.000132079	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	A	A	rs76927023	byFrequency	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr18:14779986G>A	uc010dlo.2	+	10	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R483Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284000														17			7		0	0	0.000442599	0	0
EPHA6	285220	broad.mit.edu	37	3	96706248	96706248	+	Silent	SNP	A	G	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:96706248A>G	uc010how.1	+	2	568	c.525A>G	c.(523-525)ccA>ccG	p.P175P	EPHA6_uc003drp.1_Silent_p.P175P	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	80	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(2)		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						TAATGGAACCAAACCAAAACA	0.393000														67			52		0	0	0.000147903	0	0
MMRN1	22915	broad.mit.edu	37	4	90872795	90872795	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:90872795G>A	uc003hst.3	+	6	3229	c.3158G>A	c.(3157-3159)gGg>gAg	p.G1053E	MMRN1_uc010iku.3_Missense_Mutation_p.G356E|MMRN1_uc011cds.2_Missense_Mutation_p.G795E	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1053	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGCCAAAATGGGGGCACGTGC	0.423000														34			19		0	0	9.7654e-05	0	0
ILF2	3608	broad.mit.edu	37	1	153636877	153636877	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:153636877C>G	uc001fcr.3	-	8	732	c.651G>C	c.(649-651)caG>caC	p.Q217H	ILF2_uc010pdy.2_Missense_Mutation_p.Q179H	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.	217	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCACGTGGACTGAGAAGCAT	0.443000														61			21		0	0	0.000375601	0	0
EGFR	1956	broad.mit.edu	37	7	55268925	55268925	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:55268925C>T	uc003tqk.3	+	24	3237	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	EGFR_uc022adm.1_Silent_p.F997F|EGFR_uc010kzg.2_Silent_p.F952F|EGFR_uc022adn.1_Silent_p.F952F|EGFR_uc011kco.2_Silent_p.F944F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	997					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACTCCAACTTCTACCGTGCCC	0.527000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				66			45		0	0	0.000509022	0	0
C1QA	712	broad.mit.edu	37	1	22965688	22965688	+	Missense_Mutation	SNP	G	A	A	rs45454296		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:22965688G>A	uc001bfy.3	+	2	611	c.526G>A	c.(526-528)Gtc>Atc	p.V176I		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	176	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGTCCATCGTCTCCTCCTC	0.602000														34			22		0	0	9.22233e-05	0	0
X97876	0	broad.mit.edu	37	9	66499795	66499795	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:66499795G>A	uc004aee.1	+	0	605	c.605G>A	c.(604-606)cGc>cAc	p.R202H	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TGCAAGTCGCGCAAGGAGCAG	0.592000														25			7		0	0	0.000422831	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506367	107506367	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:107506367G>A	uc010rvs.2	+	5	700	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ELMOD1_uc001pjm.3_Missense_Mutation_p.G99E|ELMOD1_uc010rvt.2_Missense_Mutation_p.G93E	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	99					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CCTAGGCTGGGAATCTCTCTT	0.433000														24			74		0	0	0.000147903	0	0
PEG3	5178	broad.mit.edu	37	19	57325403	57325403	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:57325403C>T	uc002qnu.2	-	6	4758	c.4407G>A	c.(4405-4407)gaG>gaA	p.E1469E	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.E1440E|PEG3_uc002qnv.2_Silent_p.E1469E|PEG3_uc002qnw.2_Silent_p.E1345E|PEG3_uc002qnx.2_Silent_p.E1343E|PEG3_uc010etr.2_Silent_p.E1469E	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1469	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCTTTTCCCTCTGGCTCTT	0.527000														57			28		0	0	0.000227799	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345745	24345745	+	RNA	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr19:24345745C>T	uc010edb.1	-	0		c.505G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		CAGTCTTTGTCGTTGGAACAG	0.453000														123			101		0	0	0.000147903	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:44083353A>T	uc003bdy.2	-	10	1454	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299000														133			26		0	0	0.000491102	0	0
DBC1	1620	broad.mit.edu	37	9	121971195	121971195	+	Missense_Mutation	SNP	C	T	T	rs139886257		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:121971195C>T	uc004bkc.2	-	6	1403	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	316					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGAGGCGCTTCATAAA	0.512000														14			18		0	0	0.000295444	0	0
SEMA4B	10509	broad.mit.edu	37	15	90760690	90760690	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr15:90760690C>T	uc002boy.3	+	2	460	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SEMA4B_uc002boz.3_Silent_p.F59F|SEMA4B_uc010uqd.2_5'UTR|SEMA4B_uc002bpa.3_5'Flank	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGCGGCCATTCCTCAGATTCG	0.567000														31			11		0	0	3.86212e-05	0	0
OR2D2	120776	broad.mit.edu	37	11	6913201	6913201	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:6913201G>A	uc010rau.2	-	0	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCACAAAAGAAATGAGCAA	0.493000														6			14		0	0	0.000308642	0	0
ACSS3	79611	broad.mit.edu	37	12	81624906	81624906	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr12:81624906G>A	uc001szl.1	+	11	1676	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ACSS3_uc001szm.1_Missense_Mutation_p.E528K|ACSS3_uc001szn.1_Missense_Mutation_p.E211K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	529						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTATACTTTGAAAAATTTCC	0.308000														39			22		0	0	0.000229342	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284312	33284312	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:33284312G>A	uc003oeb.3	-	1	534	c.382C>T	c.(382-384)Ctt>Ttt	p.L128F	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.L128F|ZBTB22_uc021ywm.1_Missense_Mutation_p.L128F	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCACTGTAAGGAAGTTGACA	0.577000														121			57		0	0	0.000147903	0	0
GCNT4	51301	broad.mit.edu	37	5	74324725	74324725	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:74324725G>C	uc003kdn.3	-	0	2000	c.1138C>G	c.(1138-1140)Ccc>Gcc	p.P380A		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	380					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.P380P(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GTACAACTGGGATAGAAAAAG	0.428000														29			31		0	0	0.000227799	0	0
C11orf70	85016	broad.mit.edu	37	11	101929619	101929619	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:101929619C>T	uc001pgp.3	+	2	234	c.201C>T	c.(199-201)ttC>ttT	p.F67F	C11orf70_uc001pgo.3_Silent_p.F67F|C11orf70_uc001pgq.3_Silent_p.F29F	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	67										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGGCTTTTTTCAAAGACCCAA	0.239000														10			26		0	0	0.000409698	0	0
abParts	0	broad.mit.edu	37	14	106667749	106667749	+	RNA	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:106667749C>T	uc021ser.1	-	1314		c.27178G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCTT	0.562000														52			38		0	0	0.000509022	0	0
CNGB3	54714	broad.mit.edu	37	8	87641291	87641291	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:87641291C>A	uc003ydx.3	-	11	1384	c.1336G>T	c.(1336-1338)Gga>Tga	p.G446*	CNGB3_uc010maj.3_Nonsense_Mutation_p.G308*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	446					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTAGCTGCTCCAATCACATCT	0.418000														263			10		0.000442599	0.00928309	0.000442599	1	0
DNAJB5	25822	broad.mit.edu	37	9	34996725	34996725	+	Silent	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr9:34996725C>T	uc011los.2	+	2	1252	c.891C>T	c.(889-891)atC>atT	p.I297I	DNAJB5_uc003zvs.3_Silent_p.I259I|DNAJB5_uc003zvt.3_Silent_p.I225I	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	225					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCACCAAGATCACCTTCCCCA	0.567000														9			11		0	0	0.00010058	0	0
ADAM29	11086	broad.mit.edu	37	4	175897512	175897512	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr4:175897512C>T	uc003iuc.3	+	4	1506	c.836C>T	c.(835-837)cCc>cTc	p.P279L	ADAM29_uc003iud.3_Missense_Mutation_p.P279L|ADAM29_uc010irr.3_Missense_Mutation_p.P279L|ADAM29_uc011cki.2_Missense_Mutation_p.P279L|ADAM29_uc021xuo.1_Missense_Mutation_p.P279L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	279	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.T278M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AACATTACGCCCCGGATGCAA	0.433000														65			40		0	0	0.000228196	0	0
CNR2	1269	broad.mit.edu	37	1	24201505	24201505	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:24201505G>A	uc021oij.1	-	0	603	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CNR2_uc001bif.3_Silent_p.L201L	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TTCCGGAAAAGAGGAAGGCGA	0.572000														18			13		0	0	0.000151284	0	0
UGT1A1	54658	broad.mit.edu	37	2	234526865	234526865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr2:234526865G>A	uc002vup.3	+	0	575	c.512G>A	c.(511-513)gGa>gAa	p.G171E	UGT1A1_uc010zmv.1_Missense_Mutation_p.G171E	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	174			Missing (in CN2).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.F171F(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCGCCAGGGGAATAGCTTGC	0.473000														58			76		0	0	0.000147903	0	0
FAM5C	339479	broad.mit.edu	37	1	190250829	190250829	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr1:190250829G>A	uc001gse.1	-	2	520	c.288C>T	c.(286-288)ttC>ttT	p.F96F	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	96						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAGAGCCAAGGAAATTTCTTC	0.403000														28			15		0	0	7.07596e-05	0	0
MYO18B	84700	broad.mit.edu	37	22	26294364	26294364	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr22:26294364G>A	uc003abz.1	+	28	5009	c.4759G>A	c.(4759-4761)Gat>Aat	p.D1587N	MYO18B_uc003aca.1_Missense_Mutation_p.D1468N|MYO18B_uc010guy.1_Missense_Mutation_p.D1469N|MYO18B_uc010guz.1_Missense_Mutation_p.D1467N|MYO18B_uc011aka.1_Missense_Mutation_p.D741N|MYO18B_uc011akb.1_Missense_Mutation_p.D1100N	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1587	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGACCTTGAGGATACCTGCGT	0.512000														100			29		0	0	0.000184323	0	0
LIX1	167410	broad.mit.edu	37	5	96432554	96432554	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr5:96432554C>T	uc003kmy.4	-	4	761	c.521G>A	c.(520-522)gGa>gAa	p.G174E		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	174										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TTTTAGGCTTCCATTCCAGTG	0.428000														36			22		0	0	0.000295444	0	0
BMPER	168667	broad.mit.edu	37	7	34097684	34097684	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr7:34097684G>T	uc011kap.2	+	10	1315	c.941G>T	c.(940-942)tGg>tTg	p.W314L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	314	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGAGAGATGTGGTCCTCTATC	0.517000														68			5		3.59834e-05	0.000785313	3.59834e-05	1	0
ATP2A1	487	broad.mit.edu	37	16	28909731	28909731	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr16:28909731G>A	uc002dro.1	+	13	1907	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E575K|ATP2A1_uc002drp.1_Missense_Mutation_p.E450K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	575					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAAGCGAGAGGAAATGGTCCT	0.637000														5			8		0	0	0.000157383	0	0
SCN3B	55800	broad.mit.edu	37	11	123516298	123516298	+	Silent	SNP	G	A	A			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr11:123516298G>A	uc001pza.1	-	2	623	c.216C>T	c.(214-216)ttC>ttT	p.F72F	SCN3B_uc001pzb.1_Silent_p.F72F	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	72	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	p.F72L(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AACATACAAGGAAATCTTTAC	0.572000														22			35		0	0	0.000270559	0	0
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	In_Frame_Del	DEL	AGC	-	-	rs76272937		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr3:12046124_12046126delAGC	uc003bwm.3	+	0	263_265	c.99_101delAGC	c.(97-102)caagcg>cag	p.A34del	SYN2_uc003bwl.1_In_Frame_Del_p.A34del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	34					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													---	4	---	---	2	---					
CASP8AP2	9994	broad.mit.edu	37	6	90577612	90577614	+	In_Frame_Del	DEL	GAA	-	-			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr6:90577612_90577614delGAA	uc003pnr.3	+	7	4799_4801	c.4603_4605delGAA	c.(4603-4605)gaadel	p.E1535del	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_In_Frame_Del_p.E1535del|CASP8AP2_uc011dzz.2_In_Frame_Del_p.E1535del	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1535					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)		CGTCATAATGGAAAAGTCCAATG	0.414													---	61	---	---	50	---					
MYBL1	4603	broad.mit.edu	37	8	67488453	67488453	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr8:67488453delT	uc003xwj.3	-	9	1666	c.1259delA	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Del_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Del_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTACAAGTGTTTTTTTTCCC	0.403													---	426	---	---	7	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	-	-	rs5811180		TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	1	1030_1032	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													---	4	---	---	2	---					
PPM1E	22843	broad.mit.edu	37	17	56833457	56833458	+	In_Frame_Ins	INS	-	GAACCC	GAACCC	rs72376816	by1000genomes	TCGA-ER-A19C-06A-11D-A196-08	TCGA-ER-A19C-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86c5f02f-f988-4ee3-bdb9-f3fe296412ae	a0848fec-a319-44c4-9028-4dbaf8b1646b	g.chr17:56833457_56833458insGAACCC	uc002iwx.3	+	0	226_227	c.99_100insGAACCC	c.(97-102)insGAACCC	p.43_44insEP	PPM1E_uc010ddd.3_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	43	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.E44_S45insPE(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			agccggagccggaacccgaacc	0.673													---	27	---	---	9	---					
