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
HSPA1A	3303	broad.mit.edu	37	6	31785399	31785399	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:31785399C>T	uc003nxj.3	+	0	2109	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	HSPA1L_uc003nxh.3_5'Flank|HSPA1L_uc010jte.3_5'Flank|HSPA1A_uc003nxi.1_Silent_p.F457F|HSPA1L_uc011dok.1_Non-coding_Transcript	NM_005345	NP_005337	P08107	HSP71_HUMAN	Homo sapiens heat shock 70kDa protein 1A (HSPA1A), mRNA.	622					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein N-terminus binding|protein binding involved in protein folding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						CTGGGGGCTTCGGGGCTCAGG	0.587000														162			191		0	0	0.000781405	0	0
KIF20B	9585	broad.mit.edu	37	10	91528104	91528104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:91528104C>T	uc001kgs.1	+	29	5119	c.5047C>T	c.(5047-5049)Cct>Tct	p.P1683S	KIF20B_uc001kgr.1_Missense_Mutation_p.P1643S|KIF20B_uc001kgt.1_Missense_Mutation_p.P894S|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1683	Interaction with PIN1.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTGAAATTTCCTATTTCAGA	0.299000														61			21		0	0	0.000375601	0	0
SLK	9748	broad.mit.edu	37	10	105778643	105778643	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:105778643C>T	uc001kxo.1	+	14	3143	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	SLK_uc001kxp.1_Nonsense_Mutation_p.Q1006*	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	1037					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCAAAGACATCAGCTACTTAA	0.363000														57			37		0	0	0.00128727	0	0
ENAM	10117	broad.mit.edu	37	4	71509542	71509542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:71509542C>T	uc011caw.1	+	8	2680	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	800					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAGCTAGGCCACCAGACCAG	0.463000														31			9		0	0	0.000673444	0	0
ITGA6	3655	broad.mit.edu	37	2	173349959	173349959	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:173349959G>A	uc002uhp.1	+	12	2024	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	ITGA6_uc010zdy.1_Silent_p.L488L|ITGA6_uc002uho.1_Silent_p.L607L|ITGA6_uc010fqm.1_Silent_p.L253L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	646					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTCCAATTCTGAATTCAGATG	0.408000														43			16		0	0	0.000958276	0	0
NRXN1	9378	broad.mit.edu	37	2	50699451	50699451	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:50699451C>T	uc021vhh.1	-	14	4150	c.3229G>A	c.(3229-3231)Gag>Aag	p.E1077K	NRXN1_uc002rxb.4_Missense_Mutation_p.E749K|NRXN1_uc021vhg.1_Missense_Mutation_p.E1117K|NRXN1_uc021vhi.1_Missense_Mutation_p.E1113K|NRXN1_uc021vhj.1_Missense_Mutation_p.E1073K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1077	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATCCTCTCTCGATCTGTCCG	0.433000														18			5		0	0	0.00116845	0	0
AMZ1	155185	broad.mit.edu	37	7	2740214	2740214	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:2740214C>T	uc003smr.1	+	1	490	c.129C>T	c.(127-129)ttC>ttT	p.F43F	AMZ1_uc003sms.1_Silent_p.F43F|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	43							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCGGCTCTTCCTGGCCGAGG	0.672000														130			36		0	0	0.000509022	0	0
DAP3	7818	broad.mit.edu	37	1	155691323	155691323	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:155691323C>T	uc001flq.3	+	3	341	c.184C>T	c.(184-186)Cag>Tag	p.Q62*	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Nonsense_Mutation_p.Q21*|DAP3_uc010pgm.2_Intron|DAP3_uc001fls.3_Nonsense_Mutation_p.Q62*|DAP3_uc001flr.3_Nonsense_Mutation_p.Q62*	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	62					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCATGGGGATCAGCACGAGGG	0.463000														72			8		0	0	0.000157383	0	0
LUM	4060	broad.mit.edu	37	12	91502039	91502039	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:91502039C>T	uc001tbm.3	-	1	1107	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	240					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.E240K(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TCAGCCAGTTCGTTGTGAGAT	0.388000														27			17		0	0	0.000566183	0	0
UBR2	23304	broad.mit.edu	37	6	42656026	42656027	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:42656026_42656027CC>TT	uc011dur.2	+	44	5224_5225	c.4926_4927CC>TT	c.(4924-4929)tcccag>tcTTag	p.Q1643*	UBR2_uc011dus.2_Nonsense_Mutation_p.Q1288*|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Nonsense_Mutation_p.Q231*|UBR2_uc011duu.2_Nonsense_Mutation_p.Q35*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1643					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGCTGTGCTCCCAGAGTTACTG	0.550000														48			62		0	0	6.4e-05	0	0
MYNN	55892	broad.mit.edu	37	3	169497049	169497049	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:169497049G>T	uc003ffu.3	+	3	1256	c.760G>T	c.(760-762)Gtt>Ttt	p.V254F	MYNN_uc011bpm.2_Missense_Mutation_p.V140F|MYNN_uc003fft.3_Missense_Mutation_p.V254F|MYNN_uc003ffv.3_5'UTR|MYNN_uc010hwo.3_Missense_Mutation_p.V254F|MYNN_uc003ffw.1_Non-coding_Transcript	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	254						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGTGCACACTGTTACAGTGAA	0.403000														26			8		6.5536e-12	6.68226e-11	0.000157383	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	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					44			23		0	0	0.000878237	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225411	149225411	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:149225411G>A	uc003lrc.3	+	10	2996	c.2905G>A	c.(2905-2907)Gag>Aag	p.E969K	PPARGC1B_uc003lrb.2_Missense_Mutation_p.E969K|PPARGC1B_uc003lrd.3_Missense_Mutation_p.E930K|PPARGC1B_uc021yfr.1_Missense_Mutation_p.E905K|PPARGC1B_uc003lre.1_Missense_Mutation_p.E948K|PPARGC1B_uc003lrf.3_Missense_Mutation_p.E948K	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	969	RRM.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAAGCGCAACGAGCCCTCCTT	0.612000														10			14		0	0	0.00185496	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643991	20643991	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:20643991C>T	uc001ytg.3	-	22	3488	c.2779G>A	c.(2779-2781)Gat>Aat	p.D927N	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.D927N					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGCGACCATCGATGCCTCCA	0.577000														29			4		0	0	0.000602214	0	0
CNTN6	27255	broad.mit.edu	37	3	1262438	1262438	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:1262438A>T	uc003boz.3	+	2	390	c.123A>T	c.(121-123)ttA>ttT	p.L41F	CNTN6_uc010hbo.2_Missense_Mutation_p.L36F|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.L41F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	41	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTTTGGATTTATCAAAATCTG	0.388000														54			23		0	0	0.000295444	0	0
SLC9A3	6550	broad.mit.edu	37	5	475069	475069	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:475069G>A	uc003jbe.2	-	15	2542	c.2430C>T	c.(2428-2430)tcC>tcT	p.S810S	SLC9A3_uc011clx.1_Silent_p.S801S|AK023178_uc021xvv.1_5'Flank|AK023178_uc003jbd.3_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	810						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGAGTCCACGGACTTGCTGC	0.711000														19			4		0	0	0.000602214	0	0
RFX7	64864	broad.mit.edu	37	15	56388259	56388259	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:56388259G>A	uc010bfn.3	-	8	1667	c.1667C>T	c.(1666-1668)tCt>tTt	p.S556F	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.S370F	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	459					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTCATCAGAGTTCTCTTG	0.507000														13			5		0	0	0.000602214	0	0
FAM53C	51307	broad.mit.edu	37	5	137677062	137677062	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:137677062C>T	uc003lcv.3	+	1	508	c.38C>T	c.(37-39)aCt>aTt	p.T13I	FAM53C_uc003lcw.3_Missense_Mutation_p.T13I|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	13										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAGCAGACTCTGGATGAG	0.488000														32			24		0	0	0.000586117	0	0
SMAD4	4089	broad.mit.edu	37	18	48575077	48575077	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:48575077C>T	uc010xdp.2	+	2	809	c.271C>T	c.(271-273)Cct>Tct	p.P91S	SMAD4_uc010xdo.1_Non-coding_Transcript	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	91	MH1.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAAGGATTTCCTCATGTGAT	0.358000														17			13		0	0	0.00185496	0	0
XIRP2	129446	broad.mit.edu	37	2	168103476	168103476	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:168103476G>A	uc002udx.3	+	8	5663	c.5574G>A	c.(5572-5574)acG>acA	p.T1858T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.T1683T|XIRP2_uc010fpq.3_Silent_p.T1636T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1683					actin cytoskeleton organization	cell junction	actin binding	p.T1858M(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAACAGTGACGAAAACAGAAG	0.383000														29			12		0	0	0.00185496	0	0
SIM2	6493	broad.mit.edu	37	21	38114028	38114028	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:38114028G>A	uc002yvr.2	+	7	917	c.861G>A	c.(859-861)aaG>aaA	p.K287K	SIM2_uc002yvq.3_Silent_p.K287K	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	287	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGTTGGTGAAGGGCCAGGTCA	0.647000														19			5		0	0	8.12818e-05	0	0
TRPM3	80036	broad.mit.edu	37	9	73151678	73151678	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:73151678C>T	uc004aid.3	-	24	4559	c.4315G>A	c.(4315-4317)Gcc>Acc	p.A1439T	TRPM3_uc004ahu.3_Missense_Mutation_p.A1281T|TRPM3_uc004ahv.3_Missense_Mutation_p.A1241T|TRPM3_uc004ahw.3_Missense_Mutation_p.A1311T|TRPM3_uc004ahx.3_Missense_Mutation_p.A1298T|TRPM3_uc004ahy.3_Missense_Mutation_p.A1301T|TRPM3_uc004ahz.3_Missense_Mutation_p.A1288T|TRPM3_uc004aia.3_Missense_Mutation_p.A1286T|TRPM3_uc004aib.3_Missense_Mutation_p.A1276T|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1464						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTGAAGGGGCTGTGGAAGGT	0.507000														17			17		0	0	0.00074312	0	0
PROL1	58503	broad.mit.edu	37	4	71275679	71275679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:71275679C>T	uc003hfi.3	+	2	808	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	212	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.N210_R211>KS(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGCCAACCGTCCTCACACAGT	0.453000														48			21		0	0	0.00152264	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														135			23		0	0	0.00047179	0	0
DNAH10	196385	broad.mit.edu	37	12	124284935	124284935	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:124284935G>A	uc001uft.4	+	14	2133	c.2108_splice	c.e14+1	p.R703_splice	DNAH10_uc010tav.1_Splice_Site_p.R245_splice|DNAH10_uc010taw.1_Splice_Site_p.R188_splice	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	703	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAATTCCTTAGGTAAAAAAAT	0.368000														23			8		0	0	0.000274275	0	0
TAF1A	9015	broad.mit.edu	37	1	222742994	222742995	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:222742994_222742995CC>AA	uc009xdz.2	-	6	960_961	c.751_752GG>TT	c.(751-753)ggg>TTg	p.G251L	TAF1A_uc001hni.2_Missense_Mutation_p.G137L|TAF1A_uc001hnj.3_Missense_Mutation_p.G251L|TAF1A_uc010pur.2_Missense_Mutation_p.G251L	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	251					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.G251E(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATCTCGATCCCCATAGAATTCC	0.337000														495			9		0	0	6.4e-05	0	0
NRXN2	9379	broad.mit.edu	37	11	64434811	64434811	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:64434811C>T	uc021qkw.1	-	8	2171	c.1709G>A	c.(1708-1710)gGa>gAa	p.G570E	NRXN2_uc021qkx.1_Missense_Mutation_p.G539E|NRXN2_uc001oas.3_Missense_Mutation_p.G539E|NRXN2_uc001oaq.3_Missense_Mutation_p.G237E	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	570	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.M569R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCCCCCAGATCCCATGTCCAG	0.622000														44			20		0	0	0.00188189	0	0
CHI3L2	1117	broad.mit.edu	37	1	111784988	111784988	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:111784988G>A	uc001eam.3	+	10	1246	c.1175_splice	c.e10+1		CHI3L2_uc001ean.3_Splice_Site|CHI3L2_uc001eao.3_Splice_Site	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.						chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TCCCTGTGAAGGTAACAGTCC	0.527000														33			23		0	0	0.00047179	0	0
FAM13A	10144	broad.mit.edu	37	4	89670943	89670943	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:89670943G>A	uc003hse.1	-	15	2266	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	FAM13A_uc003hsa.1_Silent_p.F157F|FAM13A_uc003hsb.1_Silent_p.F360F|FAM13A_uc003hsd.1_Silent_p.F360F|FAM13A_uc003hsc.1_Silent_p.F346F|FAM13A_uc011cdq.1_Silent_p.F332F|FAM13A_uc003hsf.1_Silent_p.F272F|FAM13A_uc003hsg.1_Silent_p.F157F|FAM13A_uc010ikr.1_Silent_p.F182F	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCTCTTCTTCGAATCTATCTT	0.473000														16			10		0	0	0.000442599	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149767	203149767	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:203149767C>T	uc001gzi.2	-	7	896	c.725G>A	c.(724-726)gGg>gAg	p.G242E	CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	242					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CAACATGTACCCCACAGCATA	0.567000														14			4		0	0	0.00116845	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521370	125521370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:125521370G>A	uc010flu.3	+	14	2720	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S	CNTNAP5_uc002tno.3_Missense_Mutation_p.G785S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	785	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCGTTGCTATGGTGACCGTGA	0.458000														22			5		0	0	8.12818e-05	0	0
CSMD2	114784	broad.mit.edu	37	1	34254227	34254227	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:34254227G>A	uc001bxm.1	-	11	1814	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	CSMD2_uc001bxn.1_Missense_Mutation_p.S506F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	506	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAATCCCAGGGAACTGCCACT	0.517000														38			13		0	0	0.00185496	0	0
C17orf28	283987	broad.mit.edu	37	17	72958362	72958362	+	Missense_Mutation	SNP	G	A	A	rs142613998		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:72958362G>A	uc002jmj.4	-	4	727	c.578C>T	c.(577-579)tCc>tTc	p.S193F	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.S192F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	193						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGCTGGGGGGAGTGAGCGAA	0.657000														22			12		0	0	0.000308642	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439877	150439877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:150439877C>T	uc022apw.1	+	5	1402	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.S217F	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CGAGAGGGCTCCTTCCACAGC	0.592000														43			23		0	0	0.000295444	0	0
SLC26A1	10861	broad.mit.edu	37	4	985298	985298	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:985298G>A	uc003gcb.3	-	2	572	c.194C>T	c.(193-195)cCg>cTg	p.P65L	SLC26A1_uc003gbx.3_Missense_Mutation_p.P65L|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.P65L	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	65						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTACTCCCGCGGGCGGTACTG	0.692000														20			7		0	0	0.000157383	0	0
ALCAM	214	broad.mit.edu	37	3	105266008	105266008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:105266008C>T	uc003dvx.3	+	9	1816	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	ALCAM_uc003dvw.2_Nonsense_Mutation_p.R374*|ALCAM_uc003dvy.3_Nonsense_Mutation_p.R374*|ALCAM_uc010hpp.3_Nonsense_Mutation_p.R96*|ALCAM_uc003dvz.3_Nonsense_Mutation_p.R8*	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	374	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CATCAGGCTTCGATCTAGCCC	0.353000														56			23		0	0	0.000586117	0	0
PCF11	51585	broad.mit.edu	37	11	82880148	82880148	+	Nonsense_Mutation	SNP	C	G	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:82880148C>G	uc001ozx.4	+	7	3116	c.2771C>G	c.(2770-2772)tCa>tGa	p.S924*	PCF11_uc010rsu.1_Nonsense_Mutation_p.S1055*	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	924	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CATGGTCCATCAGGGGCTGCG	0.527000														17			34		0	0	0.000692331	0	0
NCAN	1463	broad.mit.edu	37	19	19338872	19338872	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:19338872G>A	uc002nlz.3	+	7	2542	c.2443G>A	c.(2443-2445)Gag>Aag	p.E815K	NCAN_uc010ecc.1_Missense_Mutation_p.E379K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	815					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCAAATTTGGAGCCTTGGGT	0.567000														15			14		0	0	0.000219431	0	0
OR4D1	26689	broad.mit.edu	37	17	56232787	56232787	+	Silent	SNP	G	A	A	rs17222013		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:56232787G>A	uc010wno.2	+	0	273	c.273G>A	c.(271-273)acG>acA	p.T91T	MSX2P1_uc002ivn.3_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGACCAAGACGATCTCCTACC	0.498000														59			50		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141759379	141759379	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:141759379G>A	uc003vwy.3	+	31	3981	c.3927G>A	c.(3925-3927)ggG>ggA	p.G1309G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1309	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTGATGGGATGCGGGTCA	0.507000														47			33		0	0	0.000491102	0	0
NMNAT2	23057	broad.mit.edu	37	1	183253915	183253915	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:183253915C>A	uc001gqc.2	-	5	691	c.459G>T	c.(457-459)ttG>ttT	p.L153F	NMNAT2_uc001gqb.2_Missense_Mutation_p.L148F|NMNAT2_uc001gqd.3_Missense_Mutation_p.L48F	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	153					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CCACCTTCCCCAAGATCTTGG	0.577000														69			5		0.000602214	0.00606594	0.000602214	1	0
MAP7D1	55700	broad.mit.edu	37	1	36645654	36645654	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:36645654C>T	uc001bzz.3	+	15	2717	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	MAP7D1_uc001caa.3_Missense_Mutation_p.S801F|MAP7D1_uc001cab.3_Missense_Mutation_p.S796F|MAP7D1_uc001cac.3_Missense_Mutation_p.S533F|MAP7D1_uc001cad.3_Missense_Mutation_p.S370F	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	834						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GTGGTGCAGTCCCCGCAGGTC	0.587000														9			4		0	0	0.000602214	0	0
SP140	11262	broad.mit.edu	37	2	231108475	231108475	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:231108475G>A	uc002vql.3	+	4	635	c.520G>A	c.(520-522)Gat>Aat	p.D174N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.D174N|SP140_uc002vqn.3_Missense_Mutation_p.D174N|SP140_uc002vqm.3_Missense_Mutation_p.D174N|SP140_uc010fxl.3_Missense_Mutation_p.D174N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	174					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)		TGAAATGGATGATATAGCAGT	0.473000														51			29		0	0	0.000814825	0	0
TMEM63C	57156	broad.mit.edu	37	14	77706863	77706863	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:77706863G>A	uc001xtf.2	+	12	1188	c.976G>A	c.(976-978)Gac>Aac	p.D326N	TMEM63C_uc010asq.1_Missense_Mutation_p.D326N	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	326						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCAGCTAACGGACGAGTTCAA	0.632000														5			4		0	0	0.00024832	0	0
DNAH6	1768	broad.mit.edu	37	2	84780075	84780075	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:84780075G>A	uc010fgb.3	+	9	1656	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	DNAH6_uc002soo.3_Missense_Mutation_p.E86K|DNAH6_uc002sop.3_Missense_Mutation_p.E86K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	507	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGAAGAAGATGAATCTCTCAT	0.378000														38			11		0	0	0.000673444	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41277926	41277926	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:41277926C>T	uc003azh.3	+	2	435	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	XPNPEP3_uc011aox.2_Missense_Mutation_p.P112S|XPNPEP3_uc003azi.3_Missense_Mutation_p.P33S|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CAACGATATTCCCTATACTTT	0.468000														42			13		0	0	0.00185496	0	0
ORAI2	80228	broad.mit.edu	37	7	102079431	102079431	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:102079431G>A	uc010lhz.1	+	2	263	c.28G>A	c.(28-30)Gac>Aac	p.D10N	ORAI2_uc003uzj.2_Missense_Mutation_p.D10N|ORAI2_uc003uzk.2_Missense_Mutation_p.D10N|ORAI2_uc011kks.1_Intron	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	10						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CGTGCCTATCGACCCCTCTGC	0.602000														61			23		0	0	0.00127121	0	0
CACNA1E	777	broad.mit.edu	37	1	181701872	181701873	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:181701872_181701873CT>TC	uc009wxt.3	+	19	2845_2846	c.2650_2651CT>TC	c.(2650-2652)ctg>TCg	p.L884S	CACNA1E_uc001gow.3_Missense_Mutation_p.L884S|CACNA1E_uc009wxs.3_Missense_Mutation_p.L865S|CACNA1E_uc001gox.1_Missense_Mutation_p.L110S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	884					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCCACCATGGCTGGCCAGGCCC	0.673000														32			22		0	0	6.4e-05	0	0
AGTRAP	57085	broad.mit.edu	37	1	11807497	11807497	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:11807497G>A	uc001asv.3	+	3	187	c.63_splice	c.e3-1	p.W21_splice	AGTRAP_uc001asu.3_Splice_Site_p.G54_splice|AGTRAP_uc001ast.3_Splice_Site_p.G54_splice|AGTRAP_uc001asw.3_Splice_Site_p.W21_splice|AGTRAP_uc001asx.3_Splice_Site_p.G10_splice	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN	Homo sapiens angiotensin II receptor-associated protein (AGTRAP), transcript variant 1, mRNA.	21						Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCTACAGGGGCTGCATTG	0.627000														66			30		0	0	0.000953801	0	0
CHIA	27159	broad.mit.edu	37	1	111854906	111854906	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:111854906C>T	uc001eas.3	+	3	307	c.150C>T	c.(148-150)ctC>ctT	p.L50L	CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_Intron|CHIA_uc009wgc.3_Intron|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_Intron|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	50					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ACCCCTGCCTCTGTACCCACC	0.562000														36			11		0	0	0.000422831	0	0
LPO	4025	broad.mit.edu	37	17	56326478	56326478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:56326478C>T	uc002ivt.3	+	4	699	c.383C>T	c.(382-384)cCc>cTc	p.P128L	LPO_uc010dco.2_Missense_Mutation_p.P128L|LPO_uc010wnr.1_Missense_Mutation_p.P45L|LPO_uc010wns.2_Missense_Mutation_p.P69L|LPO_uc010dcp.3_Missense_Mutation_p.P45L|LPO_uc010dcq.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	128					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCTCCTGCTCCCGTGGTGAGA	0.597000														65			14		0	0	0.000308642	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:21818633C>T	uc003svc.3	+	57	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3139	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome					11			8		0	0	0.000274275	0	0
KCND3	3752	broad.mit.edu	37	1	112319687	112319687	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:112319687A>G	uc001ebu.1	-	6	2207	c.1727T>C	c.(1726-1728)aTc>aCc	p.I576T	KCND3_uc001ebv.1_Missense_Mutation_p.I557T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	576						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGATGTGGATCGTGCTGAG	0.567000														15			8		0	0	0.000274275	0	0
INTS1	26173	broad.mit.edu	37	7	1526267	1526267	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:1526267G>A	uc003skn.2	-	21	3071	c.2970C>T	c.(2968-2970)gcC>gcT	p.A990A	INTS1_uc003skp.1_Silent_p.A337A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	990					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCACCTTCATGGCCAGCACGC	0.632000														16			5		0	0	8.12818e-05	0	0
MFSD8	256471	broad.mit.edu	37	4	128870972	128870972	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:128870972G>A	uc003ifp.3	-	3	348	c.185C>T	c.(184-186)cCa>cTa	p.P62L	MFSD8_uc011cgu.2_Missense_Mutation_p.P17L|MFSD8_uc011cgv.1_Missense_Mutation_p.P62L|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Missense_Mutation_p.P17L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	62					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTGGAGATATGGCCATATGGA	0.308000														94			26		0	0	0.00128727	0	0
ZNF615	284370	broad.mit.edu	37	19	52496598	52496598	+	Silent	SNP	T	C	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:52496598T>C	uc002pyf.2	-	6	2081	c.1764A>G	c.(1762-1764)ttA>ttG	p.L588L	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.L577L|ZNF615_uc002pyh.2_Silent_p.L588L|ZNF615_uc010epi.2_Silent_p.L584L|ZNF615_uc002pyg.2_Silent_p.L469L|ZNF615_uc010ydg.2_Silent_p.L582L	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTTCCCAGTTAAGCCTTTGC	0.448000														47			20		0	0	0.000375601	0	0
NT5C3L	115024	broad.mit.edu	37	17	39992141	39992141	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:39992141G>A	uc021txo.1	-	1	159	c.81C>T	c.(79-81)gcC>gcT	p.A27A	NT5C3L_uc021txn.1_Silent_p.A19A|NT5C3L_uc002hxy.4_Silent_p.A19A|KLHL10_uc010cxr.3_5'Flank|KLHL10_uc010wfv.1_5'Flank|KLHL10_uc010wfw.2_5'Flank	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III-like (NT5C3L), transcript variant 1, mRNA.	27						cytoplasm	5'-nucleotidase activity|magnesium ion binding			kidney(1)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	11		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTTGCGGAGGGCGCCCACGA	0.711000														11			4		0	0	0.000602214	0	0
PTPRT	11122	broad.mit.edu	37	20	40827983	40827983	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr20:40827983C>T	uc002xkg.3	-	15	2572	c.2388G>A	c.(2386-2388)agG>agA	p.R796R	PTPRT_uc010ggj.3_Silent_p.R815R|PTPRT_uc010ggi.3_5'UTR	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	796					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCCATCTCCCTCTGGGCTC	0.557000														78			94		0	0	0.000781405	0	0
USP6	9098	broad.mit.edu	37	17	5076250	5076250	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:5076250G>A	uc002gau.1	+	37	6428	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K	USP6_uc002gav.1_Missense_Mutation_p.E1400K|USP6_uc010ckz.1_Missense_Mutation_p.E1083K	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1400					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTGATTACGAAAAGTACTC	0.463000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									21			13		0	0	0.000219431	0	0
INSR	3643	broad.mit.edu	37	19	7125493	7125493	+	Missense_Mutation	SNP	C	T	T	rs121913148		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:7125493C>T	uc002mgd.1	-	16	3168	c.3059G>A	c.(3058-3060)cGa>cAa	p.R1020Q	INSR_uc002mge.1_Missense_Mutation_p.R1008Q	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1020			R -> Q (in IRAN type A).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTTCTCTCGAGACACCTC	0.572000														67			71		0	0	0.000781405	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963798	73963798	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:73963798C>T	uc004eby.3	-	2	1211	c.594G>A	c.(592-594)caG>caA	p.Q198Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	198					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGAGAGCAGCTGCTCTCCAT	0.458000														14			12		0	0	0.000978159	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877725	39877725	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:39877725A>C	uc009vvt.1	+	0	2550	c.1788A>C	c.(1786-1788)gaA>gaC	p.E596D	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	460										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTCACTGGAAAAGCTGGACC	0.468000														46			21		0	0	0.00188189	0	0
KIAA0247	9766	broad.mit.edu	37	14	70171364	70171364	+	Silent	SNP	A	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:70171364A>T	uc001xlk.3	+	3	679	c.363A>T	c.(361-363)atA>atT	p.I121I	KIAA0247_uc010aqz.3_Silent_p.I96I	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	121						integral to membrane		p.S120Y(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		CGCTGTCTATAGTGGCTTCTA	0.493000														25			9		0	0	0.000978159	0	0
COL11A1	1301	broad.mit.edu	37	1	103449711	103449711	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:103449711C>T	uc001dum.3	-	30	2893	c.2575G>A	c.(2575-2577)Gga>Aga	p.G859R	COL11A1_uc001duk.3_Silent_p.Q37Q|COL11A1_uc001dul.3_Missense_Mutation_p.G847R|COL11A1_uc001dun.3_Missense_Mutation_p.G808R|COL11A1_uc009weh.3_Missense_Mutation_p.G731R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	847	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTTGTCTTCCTGGATATCCT	0.269000														21			8		0	0	0.000673444	0	0
DOCK11	139818	broad.mit.edu	37	X	117727237	117727237	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:117727237C>T	uc004eqp.2	+	19	2263	c.2200C>T	c.(2200-2202)Cat>Tat	p.H734Y	DOCK11_uc004eqq.2_Missense_Mutation_p.H500Y	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	734	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACTTTTTATCATGTAAGTTG	0.333000														18			28		0	0	0.000339439	0	0
ABCC8	6833	broad.mit.edu	37	11	17417462	17417462	+	Missense_Mutation	SNP	G	A	A	rs137852673		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:17417462G>A	uc001mnc.3	-	33	4261	c.4135C>T	c.(4135-4137)Cgc>Tgc	p.R1379C		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1379	ABC transporter 2.		R -> C (in TNDM2).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCCGGTGCGGCCGCAGATC	0.607000														78			22		0	0	0.000720815	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48818852	48818852	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:48818852C>T	uc002rwp.2	+	2	2105	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P664L|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P664L|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P664L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P664L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	664					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGAAATTCCCTCTGATTGG	0.438000														65			20		0	0	0.000586117	0	0
RFX7	64864	broad.mit.edu	37	15	56390309	56390309	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:56390309G>A	uc010bfn.3	-	7	1077	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.I173I	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	262					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCCACAACGATACCAATAG	0.403000														30			9		0	0	0.000673444	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515662	140515662	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:140515662G>A	uc003liq.3	+	0	863	c.646G>A	c.(646-648)Gac>Aac	p.D216N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTGCACTGGACGGTGGGGC	0.547000														30			21		0	0	0.00121646	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454688	114454688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:114454688C>T	uc001eeg.3	+	3	1768	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.L366F	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	492					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCACCCCTCTTCTAGCTAC	0.522000								Other identified genes with known or suspected DNA repair function						65			30		0	0	0.000339439	0	0
NBEAL1	65065	broad.mit.edu	37	2	204062079	204062079	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:204062079C>T	uc002uzt.3	+	46	7339	c.7006C>T	c.(7006-7008)Cgt>Tgt	p.R2336C	NBEAL1_uc021vvj.1_Intron	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2336							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAATCAGTATCGTTCTTTTAT	0.363000														251			117		0	0	0.000781405	0	0
RNF31	55072	broad.mit.edu	37	14	24620532	24620532	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:24620532C>T	uc001wmn.1	+	8	1930	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C	RNF31_uc001wml.1_Missense_Mutation_p.R410C|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R320C|RNF31_uc001wmo.1_Missense_Mutation_p.R28C|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	561					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGGCTGGATCGTCATGGCAA	0.597000														14			11		0	0	0.00185496	0	0
IGF1R	3480	broad.mit.edu	37	15	99500325	99500325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:99500325C>T	uc002bul.3	+	20	3808	c.3758C>T	c.(3757-3759)cCc>cTc	p.P1253L	IGF1R_uc010bon.3_Missense_Mutation_p.P1252L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1253	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAGTATAACCCCAAGATGAGG	0.572000														35			19		0	0	0.00188189	0	0
CHD5	26038	broad.mit.edu	37	1	6194871	6194871	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:6194871G>A	uc001amb.2	-	18	3030	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	973					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGCCCCCCTTGGAGTTCAGTG	0.567000														68			38		0	0	0.000680045	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999112	27999112	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:27999112C>T	uc004dbx.1	-	0	455	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	114	Glu-rich.							p.E114K(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGCTGTtcttcctcctcccct	0.517000														10			11		0	0	0.000673444	0	0
LCE1B	353132	broad.mit.edu	37	1	152784962	152784962	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:152784962C>T	uc001faq.3	+	0	516	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	14	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGCCccctcccaagtgcat	0.597000														32			29		0	0	0.000409698	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:100137326G>A	uc003huo.2	-	1	206	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.R38C|ADH6_uc010ile.3_Missense_Mutation_p.R38C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	38					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACCTTTATGCGAACTTCCTTT	0.393000														30			17		0	0	0.000566183	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120766	38120766	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:38120766C>T	uc003atr.3	+	6	2474	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	TRIOBP_uc003atu.3_Missense_Mutation_p.R563C|TRIOBP_uc003atq.1_Missense_Mutation_p.R735C|TRIOBP_uc003ats.1_Missense_Mutation_p.R563C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	735					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.R735C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCGCAACAGAAC	0.572000														27			10		0	0	0.000673444	0	0
SEZ6L	23544	broad.mit.edu	37	22	26747191	26747191	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:26747191C>T	uc003acb.3	+	11	2777	c.2581C>T	c.(2581-2583)Cgc>Tgc	p.R861C	SEZ6L_uc003acd.3_Intron|SEZ6L_uc011akd.2_Missense_Mutation_p.R861C|SEZ6L_uc003ace.3_Missense_Mutation_p.R861C|SEZ6L_uc011akc.2_Missense_Mutation_p.R861C|SEZ6L_uc003acc.3_Missense_Mutation_p.R861C|SEZ6L_uc003acf.1_Missense_Mutation_p.R634C|SEZ6L_uc010gvc.1_Missense_Mutation_p.R634C|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	861	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGGACGTCTCGCCTGCCCCA	0.532000														38			14		0	0	0.000308642	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647356	121647356	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:121647356G>A	uc003eep.2	+	14	1448	c.1295G>A	c.(1294-1296)gGa>gAa	p.G432E	SLC15A2_uc011bjn.1_Missense_Mutation_p.G401E	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	432					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	ACAGTGGTGGGAAATGAAAAC	0.443000														56			18		0	0	0.000958276	0	0
MTFMT	123263	broad.mit.edu	37	15	65297207	65297207	+	Silent	SNP	T	C	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:65297207T>C	uc002aof.4	-	7	986	c.960A>G	c.(958-960)ctA>ctG	p.L320L		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	320						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AATAAACCAATAGTATTTGTG	0.294000														40			18		0	0	0.00152264	0	0
OR14J1	442191	broad.mit.edu	37	6	29275146	29275146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:29275146C>T	uc011dln.2	+	0	680	c.680C>T	c.(679-681)cCa>cTa	p.P227L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CTGAGAATCCCATCAGCTGAG	0.493000														36			58		0	0	0.000781405	0	0
TLL2	7093	broad.mit.edu	37	10	98170121	98170121	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:98170121C>T	uc001kml.2	-	8	1400	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	TLL2_uc009xvf.2_Missense_Mutation_p.E365K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	387	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTACCTTTTCCCCTGGGGTG	0.522000														34			13		0	0	0.000308642	0	0
PTH1R	5745	broad.mit.edu	37	3	46944049	46944049	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:46944049C>T	uc003cqm.3	+	13	1448	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	PTH1R_uc021wxg.1_Silent_p.P415P	NM_000316	NP_001171673	Q03431	PTH1R_HUMAN	Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA.	415						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGCTCATGCCCCTCTTTGGCG	0.577000														6			3		0	0	6.4e-05	0	0
MKI67	4288	broad.mit.edu	37	10	129906068	129906068	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr10:129906068G>A	uc001lke.3	-	12	4231	c.4036C>T	c.(4036-4038)Ctg>Ttg	p.L1346L	MKI67_uc001lkf.3_Silent_p.L986L|MKI67_uc009yav.1_Silent_p.L921L|MKI67_uc009yaw.1_Silent_p.L496L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1346	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCCAGTCAGGTCTTCCAGA	0.522000														86			25		0	0	0.000586117	0	0
FOS	2353	broad.mit.edu	37	14	75747272	75747272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:75747272G>A	uc001xrn.3	+	2	608	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	FOS_uc010tva.2_Intron|FOS_uc010asi.3_Missense_Mutation_p.E21K	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	135				SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).	DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GTTATCTCCAGAAGAAGAAGA	0.483000														9			6		0	0	0.00116845	0	0
PRPF40A	55660	broad.mit.edu	37	2	153572514	153572514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:153572514C>T	uc002tyi.2	-	1	305	c.292G>A	c.(292-294)Gga>Aga	p.G98R	ARL6IP6_uc002tyn.3_5'Flank|ARL6IP6_uc002tym.3_5'Flank|PRPF40A_uc002tyh.4_Missense_Mutation_p.G71R|PRPF40A_uc010zcd.1_Missense_Mutation_p.G71R|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Missense_Mutation_p.G98R	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	98					RNA splicing|mRNA processing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTTACTTGTCCCATTGGTGGC	0.433000														84			26		0	0	0.001512	0	0
EBF1	1879	broad.mit.edu	37	5	158158157	158158157	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr5:158158157C>T	uc010jip.3	-	10	1347	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	EBF1_uc011ddw.2_Missense_Mutation_p.E217K|EBF1_uc011ddx.2_Missense_Mutation_p.E350K|EBF1_uc003lxl.4_Missense_Mutation_p.E318K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	349					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGTGGGTTCGTTGAGCGCT	0.448000			T	HMGA2	lipoma									10			10		0	0	0.000673444	0	0
DCAKD	79877	broad.mit.edu	37	17	43111675	43111675	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:43111675G>A	uc002ihx.2	-	1	452	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	DCAKD_uc010daa.1_Missense_Mutation_p.R66C|DCAKD_uc010dab.1_Missense_Mutation_p.R66C|DCAKD_uc002ihy.3_Missense_Mutation_p.R66C	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 1, mRNA.	66	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				AGGACCTTGCGATTTATGTCG	0.597000														23			10		0	0	0.000442599	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839150	14839150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:14839150G>A	uc001rcd.3	-	2	477	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	GUCY2C_uc009zhz.2_Missense_Mutation_p.R114W	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	114			R -> Q (in dbSNP:rs56275235).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CAGCCCATCCGTTGTGCATTC	0.438000														10			5		0	0	8.12818e-05	0	0
OR5D14	219436	broad.mit.edu	37	11	55563175	55563175	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:55563175C>T	uc010rim.2	+	0	144	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTGGGATGATCATAATAATCA	0.383000														44			17		0	0	0.00121646	0	0
OR4C16	219428	broad.mit.edu	37	11	55339967	55339967	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:55339967G>A	uc010rih.2	+	0	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGACCGCTATGTGGACATCTG	0.507000														88			38		0	0	0.00111076	0	0
MYH4	4622	broad.mit.edu	37	17	10358038	10358038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:10358038G>A	uc002gmn.3	-	21	2636	c.2525C>T	c.(2524-2526)cCc>cTc	p.P842L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	842					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.P842T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGAGGAGGGGCTTGATCTT	0.448000														49			16		0	0	0.00121646	0	0
PGAP1	80055	broad.mit.edu	37	2	197784798	197784798	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:197784798G>A	uc002utw.3	-	1	338	c.224C>T	c.(223-225)gCt>gTt	p.A75V	PGAP1_uc002utx.3_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.A75V|PGAP1_uc010zgv.1_Non-coding_Transcript|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	75					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTGTTCTTCAGCATAGGATCC	0.368000														67			29		0	0	0.00058488	0	0
NXF1	10482	broad.mit.edu	37	11	62566040	62566040	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:62566040G>A	uc001nvf.1	-	10	1160	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.R385C|NXF1_uc010rmh.1_3'UTR	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	342	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCGTTCGCGAATGGCGCTG	0.493000														41			25		0	0	0.00178596	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844381	12844381	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:12844381C>T	uc002gnr.4	+	7	918	c.591C>T	c.(589-591)ctC>ctT	p.L197L	ARHGAP44_uc010vvk.2_Silent_p.L197L|ARHGAP44_uc010vvl.2_Silent_p.L197L|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Silent_p.L197L|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	197	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AGGACCAGCTCTCAGCTGATA	0.413000														45			11		0	0	0.00136819	0	0
SALL3	27164	broad.mit.edu	37	18	76754643	76754643	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:76754643C>T	uc002lmt.3	+	1	2652	c.2652C>T	c.(2650-2652)ggC>ggT	p.G884G	SALL3_uc010dra.3_Silent_p.G491G	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGGCCGTGGGCGACCTGGAGA	0.701000														18			7		0	0	8.12818e-05	0	0
HINT2	84681	broad.mit.edu	37	9	35813656	35813656	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:35813656G>A	uc003zyh.3	-	1	273	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SPAG8_uc003zye.3_5'Flank|SPAG8_uc003zyg.3_5'Flank	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), nuclear gene encoding mitochondrial protein, mRNA.	69	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	p.L69L(2)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCTCATAGAGAATGTCAG	0.562000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			16		0	0	0.000422831	0	0
NID2	22795	broad.mit.edu	37	14	52481052	52481052	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:52481052C>T	uc001wzo.3	-	15	3607	c.3373G>A	c.(3373-3375)Ggc>Agc	p.G1125S	NID2_uc010tqs.2_Missense_Mutation_p.G1077S|NID2_uc010tqt.1_Missense_Mutation_p.G1125S|NID2_uc001wzp.3_Missense_Mutation_p.G1125S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1125						basement membrane	calcium ion binding|collagen binding	p.G1125D(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGCCTGGTGCCATTGAGGGGT	0.592000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			18		0	0	0.00121646	0	0
TFE3	7030	broad.mit.edu	37	X	48887842	48887843	+	Silent	DNP	GG	AA	AA			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:48887842_48887843GG>AA	uc004dmb.3	-	9	1792_1793	c.1554_1555CC>TT	c.(1552-1557)cacctg>caTTtg	p.518_519HL>HL	TFE3_uc004dmc.3_Silent_p.413_414HL>HL	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	518					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCCAGCCCCAGGTGGAAGGGGT	0.673000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									20			16		0	0	6.4e-05	0	0
PPP1CB	5500	broad.mit.edu	37	2	28999833	28999833	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:28999833C>T	uc002rmg.3	+	2	329	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	PPP1CB_uc010ymj.2_Missense_Mutation_p.P29S|PPP1CB_uc010ymk.2_Missense_Mutation_p.P29S|PPP1CB_uc010yml.2_Missense_Mutation_p.P29S|PPP1CB_uc002rmh.3_Missense_Mutation_p.P57S	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	57					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATTGGAAGCACCGCTGAAAAT	0.383000														52			21		0	0	0.00188189	0	0
UNC13C	440279	broad.mit.edu	37	15	54707217	54707217	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:54707217G>A	uc021smr.1	+	16	4879	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K	UNC13C_uc021sms.1_Missense_Mutation_p.E1629K|UNC13C_uc002acl.3_Missense_Mutation_p.E459K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1629					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATAAGTGCCGAAATTATGTG	0.308000														36			16		0	0	0.00121646	0	0
CBS	875	broad.mit.edu	37	21	44485500	44485500	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:44485500G>A	uc002zcu.2	-	6	908	c.663C>T	c.(661-663)gaC>gaT	p.D221D	CBS_uc002zcs.1_Silent_p.D116D|CBS_uc002zct.2_Silent_p.D221D|CBS_uc002zcw.3_Silent_p.D221D|CBS_uc002zcv.2_Silent_p.D221D	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	221					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCCTCACCTGGTCTAGGATGT	0.622000														135			48		0	0	0.000781405	0	0
ITGA11	22801	broad.mit.edu	37	15	68624236	68624236	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:68624236G>A	uc010bib.3	-	13	1818	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	ITGA11_uc002ari.3_Silent_p.F577F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	577					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGAAGCCGTGGAAGATGTAGA	0.597000														12			4		0	0	0.00024832	0	0
abParts	0	broad.mit.edu	37	14	106744117	106744117	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:106744117C>T	uc021ser.1	-	810		c.20381_splice	c.e810+1		LINC00226_uc021seu.1_5'Flank					Parts of antibodies, mostly variable regions.																		CACTGATGATCCCATAGCTGT	0.502000														20			5		0	0	0.00116845	0	0
SSH3	54961	broad.mit.edu	37	11	67077377	67077377	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:67077377C>T	uc001okj.3	+	11	1525	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.I303I	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	449	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCGGCCCATCGCCCGCCCCA	0.672000														100			11		0	0	0.00185496	0	0
DNAH7	56171	broad.mit.edu	37	2	196834754	196834754	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:196834754G>A	uc002utj.4	-	16	2224	c.2123C>T	c.(2122-2124)tCa>tTa	p.S708L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	708	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCTCCAAATGAATAAAATTC	0.328000														48			16		0	0	0.000566183	0	0
TBRG4	9238	broad.mit.edu	37	7	45148639	45148639	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:45148639G>A	uc011kcd.2	-	1	280	c.231C>T	c.(229-231)ccC>ccT	p.P77P	TBRG4_uc003tmu.3_5'Flank|TBRG4_uc003tmv.3_Silent_p.P66P|TBRG4_uc003tmw.3_Silent_p.P66P|TBRG4_uc003tmx.3_Silent_p.P66P|TBRG4_uc003tna.4_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	66					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TCTCTATGTAGGGAGTAGATG	0.557000														50			18		0	0	0.00074312	0	0
CHI3L1	1116	broad.mit.edu	37	1	203149641	203149641	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:203149641G>A	uc001gzi.2	-	7	1022	c.851C>T	c.(850-852)cCa>cTa	p.P284L	CHI3L1_uc001gzk.1_Intron|CHI3L1_uc001gzj.2_Intron|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	284					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						GAACCGGCCTGGAATTCCCGG	0.592000														29			18		0	0	0.00121646	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782399	62782399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:62782399C>T	uc009yon.3	-	1	153	c.32G>A	c.(31-33)gGa>gAa	p.G11E	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.G11E|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.G11E	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	11					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCCCATGCTTCCCACACGGTC	0.592000														41			14		0	0	0.00185496	0	0
LPHN1	22859	broad.mit.edu	37	19	14263412	14263412	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr19:14263412C>T	uc010xnn.2	-	20	3748	c.3452G>A	c.(3451-3453)aGg>aAg	p.R1151K	LPHN1_uc010xno.2_Missense_Mutation_p.R1146K|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1151					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCCACATCCTCCGAATTCG	0.562000														7			4		0	0	0.00116845	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750877	+	Missense_Mutation	DNP	CG	AT	AT	rs145721552	by1000genomes	TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:222750876_222750877CG>AT	uc009xdz.2	-	4	723_724	c.514_515CG>AT	c.(514-516)cgg>ATg	p.R172M	TAF1A_uc001hni.2_Missense_Mutation_p.R58M|TAF1A_uc001hnj.3_Missense_Mutation_p.R172M|TAF1A_uc010pur.2_Missense_Mutation_p.R172M	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(2)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGTA	0.381000														833			11		0	0	6.4e-05	0	0
ZNF521	25925	broad.mit.edu	37	18	22806369	22806369	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr18:22806369G>A	uc002kvk.2	-	3	1760	c.1513C>T	c.(1513-1515)Cct>Tct	p.P505S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.P505S|ZNF521_uc002kvl.2_Missense_Mutation_p.P285S	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	505					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TTAGCTGCAGGGTTTGCAAAT	0.443000			T	PAX5	ALL									40			10		0	0	0.000673444	0	0
CDAN1	146059	broad.mit.edu	37	15	43018511	43018511	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:43018511G>A	uc001zql.3	-	23	3318	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Silent_p.R393R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	1067						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCTCACCTGGCGGCACCGCA	0.642000														2			3		0	0	6.4e-05	0	0
AZGP1	563	broad.mit.edu	37	7	99564802	99564802	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:99564802G>A	uc003ush.3	-	3	813	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	241	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGCCGGCCCGAGTCCAGTGC	0.582000														15			8		0	0	0.000157383	0	0
ZFP42	132625	broad.mit.edu	37	4	188924786	188924786	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:188924786C>T	uc003izh.1	+	3	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_uc003izi.1_Silent_p.F275F|ZFP42_uc021xvm.1_Silent_p.F275F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	275					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488000														33			32		0	0	0.000339439	0	0
BCL7A	605	broad.mit.edu	37	12	122473294	122473294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:122473294C>T	uc001ubo.3	+	2	369	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	BCL7A_uc001ubp.3_Missense_Mutation_p.P78S	NM_020993	NP_066273	Q4VC05	BCL7A_HUMAN	Homo sapiens B-cell CLL/lymphoma 7A (BCL7A), transcript variant 1, mRNA.	78					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGTGACCACTCCGGAGAACAG	0.557000			T	MYC	BNHL									12			6		0	0	0.000157383	0	0
NDRG4	65009	broad.mit.edu	37	16	58543093	58543093	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr16:58543093G>A	uc002enm.3	+	14	1310	c.969_splice	c.e14+1	p.Q323_splice	NDRG4_uc002enk.3_Splice_Site_p.Q303_splice|NDRG4_uc010vif.2_Splice_Site_p.Q303_splice|NDRG4_uc002eno.3_Splice_Site_p.Q271_splice|NDRG4_uc010cdk.3_Splice_Site_p.Q289_splice|NDRG4_uc010vig.2_Splice_Site_p.Q301_splice|NDRG4_uc010vih.2_Splice_Site_p.Q216_splice|NDRG4_uc010vii.2_Splice_Site_p.Q289_splice|NDRG4_uc002enp.3_Splice_Site_p.Q271_splice|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	271					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGGTCACACAGGTGAGACTTT	0.597000														36			19		0	0	0.00074312	0	0
KCNV2	169522	broad.mit.edu	37	9	2718332	2718332	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:2718332G>A	uc003zho.2	+	0	807	c.593G>A	c.(592-594)tGc>tAc	p.C198Y		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	198						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACGCCACGCTGCTGCCGCATC	0.692000														3			5		0	0	0.000602214	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37151058	37151058	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:37151058G>A	uc003cgp.2	-	11	992	c.569C>T	c.(568-570)tCt>tTt	p.S190F	LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	190	DVL3-binding.|Ser-rich.				Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCAGTAGGAGAGGCCTAAGA	0.433000														52			25		0	0	0.00106085	0	0
FOLR1	2348	broad.mit.edu	37	11	71907152	71907152	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:71907152G>A	uc001orz.2	+	5	981	c.705G>A	c.(703-705)ggG>ggA	p.G235G	FOLR1_uc001osa.2_Silent_p.G235G|FOLR1_uc001osb.2_Silent_p.G235G|FOLR1_uc001osd.2_Silent_p.G235G	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	235					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CCATGAGTGGGGCTGGGCCCT	0.612000														36			63		0	0	0.000781405	0	0
OR1G1	8390	broad.mit.edu	37	17	3030350	3030350	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:3030350G>A	uc002fvc.1	-	0	496	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAGAAGGACAGGCTGTTCATC	0.522000														51			21		0	0	0.00188189	0	0
FLNA	2316	broad.mit.edu	37	X	153594957	153594957	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrX:153594957G>A	uc004fkk.2	-	6	1287	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y	FLNA_uc010nuu.1_Silent_p.Y346Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	346					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTCGGGGACGTACCAGACGG	0.622000														20			15		0	0	0.000422831	0	0
CD163L1	283316	broad.mit.edu	37	12	7585069	7585069	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:7585069G>A	uc010sge.2	-	3	765	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	CD163L1_uc001qsy.3_Missense_Mutation_p.R237C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	237	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATCCACGATGTCTGCAA	0.433000														36			17		0	0	0.000958276	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742066	41742066	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:41742066G>A	uc003azw.3	+	13	1735	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	523					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACCATCAGGAGGAGATCGA	0.607000														69			30		0	0	0.000491102	0	0
TP63	8626	broad.mit.edu	37	3	189526123	189526123	+	Silent	SNP	G	A	A	rs151335217	byFrequency	TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr3:189526123G>A	uc003fry.2	+	3	476	c.387G>A	c.(385-387)tcG>tcA	p.S129S	TP63_uc003frx.2_Silent_p.S129S|TP63_uc003frz.2_Silent_p.S129S|TP63_uc010hzc.1_Silent_p.S129S|TP63_uc003fsa.2_Silent_p.S35S|TP63_uc003fsb.2_Silent_p.S35S|TP63_uc003fsc.2_Silent_p.S35S|TP63_uc003fsd.2_Silent_p.S35S|TP63_uc021xir.1_Silent_p.S35S|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.S10S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	129			S -> L.		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACGGCTCCTCGTCCACCAGTC	0.592000										HNSCC(45;0.13)				21			17		0	0	0.000422831	0	0
OR9A4	130075	broad.mit.edu	37	7	141618751	141618751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:141618751C>T	uc003vwu.1	+	0	76	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					ACATCATATCCTTTTTGCTAT	0.393000														151			28		0	0	0.00178596	0	0
TMEM201	199953	broad.mit.edu	37	1	9657000	9657001	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:9657000_9657001CC>TT	uc021ofy.1	+	2	375_376	c.318_319CC>TT	c.(316-321)gaccct>gaTTct	p.P107S	TMEM201_uc001apy.3_Missense_Mutation_p.P107S|TMEM201_uc021ofz.1_5'UTR	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	107						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCTGCGCGACCCTTCGCAGCC	0.649000														25			9		0	0	6.4e-05	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902126	206902126	+	Silent	SNP	C	T	T	rs140239057		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr1:206902126C>T	uc001hem.2	+	1	561	c.351C>T	c.(349-351)atC>atT	p.I117I	MAPKAPK2_uc001hel.2_Silent_p.I117I	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	117	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GCCCGCACATCGTACGGATCG	0.592000														25			23		0	0	0.000586117	0	0
CCDC158	339965	broad.mit.edu	37	4	77252515	77252515	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:77252515G>A	uc003hkb.4	-	19	3065	c.2912C>T	c.(2911-2913)tCa>tTa	p.S971L		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	971	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTTTCACTTGATTTGCTTCC	0.368000														74			28		0	0	0.000339439	0	0
MTNR1B	4544	broad.mit.edu	37	11	92715238	92715239	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:92715238_92715239CC>AA	uc001pdk.1	+	1	952_953	c.849_850CC>AA	c.(847-852)ccccag>ccAAag	p.Q284K		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	284					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AAATGGCTCCCCAGATCCCTGA	0.500000														768			12		0	0	6.4e-05	0	0
BEGAIN	57596	broad.mit.edu	37	14	101012897	101012897	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr14:101012897C>T	uc010txa.2	-	1	263	c.117G>A	c.(115-117)ctG>ctA	p.L39L	BEGAIN_uc001yhp.3_5'UTR|BEGAIN_uc001yhq.3_Silent_p.L39L	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	39						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCTCGATCTCCAGGTAGTGGC	0.697000														22			9		0	0	0.000978159	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	78920	78920	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chrGL000219.1:78920A>G	uc022brb.1	-	5	579	c.266T>C	c.(265-267)cTt>cCt	p.L89P	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ACTTATTTTAAGTTTGTGCTC	0.294000														177			4		0	0	0.00024832	0	0
SV2B	9899	broad.mit.edu	37	15	91769790	91769790	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:91769790G>T	uc002bqv.3	+	2	1188	c.297G>T	c.(295-297)atG>atT	p.M99I	SV2B_uc002bqt.3_Missense_Mutation_p.M99I|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	99					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCATCATGGATGAGTGTG	0.587000														324			9		0.000442599	0.00448537	0.000442599	1	0
MYH4	4622	broad.mit.edu	37	17	10352058	10352058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr17:10352058C>T	uc002gmn.3	-	31	4519	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1470					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCAAGTTCAGCCTGAGTT	0.453000														35			12		0	0	0.000308642	0	0
SMU1	55234	broad.mit.edu	37	9	33062073	33062073	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:33062073G>A	uc003zsf.1	-	4	712	c.604C>T	c.(604-606)Cct>Tct	p.P202S	SMU1_uc011lnu.1_Missense_Mutation_p.P41S	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	202						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGTTGTGTAGGAAACTTTTCT	0.473000														14			12		0	0	0.000219431	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059079	79059079	+	Silent	SNP	C	G	G			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr15:79059079C>G	uc002bej.4	-	18	3385	c.3174G>C	c.(3172-3174)gtG>gtC	p.V1058V	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1058					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGTCCACAAACACGGGCCCCG	0.612000														22			14		0	0	0.000422831	0	0
KLF3	51274	broad.mit.edu	37	4	38690508	38690508	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr4:38690508G>A	uc003gth.4	+	2	692	c.360G>A	c.(358-360)ccG>ccA	p.P120P	KLF3_uc003gtg.2_Silent_p.P120P	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	120	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TCGGCGTGCCGCTGTCCATGC	0.647000														36			10		0	0	0.000442599	0	0
OR2A2	442361	broad.mit.edu	37	7	143807482	143807482	+	Silent	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:143807482G>A	uc011ktz.2	+	0	807	c.807G>A	c.(805-807)caG>caA	p.Q269Q		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAGAGGAGCAGGAGAAAATGC	0.517000														89			55		0	0	0.000781405	0	0
GABBR2	9568	broad.mit.edu	37	9	101133789	101133789	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr9:101133789C>T	uc004ays.3	-	11	2187	c.1727G>A	c.(1726-1728)tGg>tAg	p.W576*		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	576					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGGACTCTCCAGGTCTTTGC	0.473000														8			8		0	0	0.000673444	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864730	43864730	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr21:43864730G>A	uc002zbe.3	+	13	1909	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	UBASH3A_uc002zbf.3_Missense_Mutation_p.D571N|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	609	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGAATGTGGGGATTTTGCCCA	0.567000														65			28		0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179489312	179489312	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:179489312C>T	uc021vsy.1	-	190	37216	c.36991G>A	c.(36991-36993)Gaa>Aaa	p.E12331K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E6026K|TTN_uc021vta.1_Missense_Mutation_p.E5959K|TTN_uc021vtb.1_Missense_Mutation_p.E5834K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13258							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAACAATTTCATACTTCTTG	0.408000														32			14		0	0	0.000308642	0	0
FAM179A	165186	broad.mit.edu	37	2	29240666	29240666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr2:29240666C>T	uc010ezl.3	+	9	1555	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	402							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGCCTCCTTCCCCTCCGGGG	0.602000														6			5		0	0	8.12818e-05	0	0
VSIG10	54621	broad.mit.edu	37	12	118519988	118519988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:118519988G>A	uc001tws.3	-	2	942	c.608C>T	c.(607-609)gCc>gTc	p.A203V		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	203	Ig-like C2-type 2.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CTGATTCAAGGCTAAACAGGT	0.517000														24			12		0	0	0.00136819	0	0
RNF17	56163	broad.mit.edu	37	13	25363493	25363493	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr13:25363493G>C	uc001upr.3	+	7	832	c.791G>C	c.(790-792)cGg>cCg	p.R264P	RNF17_uc010tdd.1_Missense_Mutation_p.R123P|RNF17_uc010tde.2_Missense_Mutation_p.R264P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R203P|RNF17_uc001upq.1_Missense_Mutation_p.R264P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	264					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.I263N(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TAGATTATCCGGACTTTGCAG	0.338000														102			50		0	0	0.000781405	0	0
PGM2L1	283209	broad.mit.edu	37	11	74057837	74057838	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:74057837_74057838CG>AT	uc001ovb.1	-	7	1272_1273	c.976_977CG>AT	c.(976-978)cgg>ATg	p.R326M		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	326					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TAGCACTACCCGGGCATTTTCT	0.431000														342			8		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92087298	92087299	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr11:92087298_92087299GG>TT	uc001pdj.4	+	0	2037_2038	c.2020_2021GG>TT	c.(2020-2022)ggg>TTg	p.G674L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	674	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTCCTACATGGGAAAGTGTCT	0.406000										TCGA Ovarian(4;0.039)				685			11		0	0	6.4e-05	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782490	35782490	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr6:35782490T>A	uc003olg.1	+	1	957	c.580T>A	c.(580-582)Ttc>Atc	p.F194I		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	194						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CATCCTCTCCTTCCTGGCCTT	0.612000														11			13		0	0	0.00185496	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	T	T			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:142457353C>T	uc003wak.2	+	0	35	c.18C>T	c.(16-18)atC>atT	p.I6I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.I6I|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACTCCTGATCCTTACCTTTG	0.562000														47			24		0	0	0.00127121	0	0
GPC2	221914	broad.mit.edu	37	7	99769030	99769030	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr7:99769030delG	uc003utv.3	-	8	1508	c.1340delC	c.(1339-1341)ccgfs	p.P447fs	GAL3ST4_uc003utu.3_5'Flank|GPC2_uc010lgr.3_Non-coding_Transcript	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	447						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCTCGGCCGGGGAGCCCCC	0.766													---	4	---	---	2	---					
TM7SF3	51768	broad.mit.edu	37	12	27167053	27167053	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr12:27167053delG	uc010sjl.2	-	0	287	c.49delC	c.(49-51)cggfs	p.R17fs		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	17						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CCAGCCACCCGGTGTTCGGAT	0.662													---	4	---	---	2	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	158	---	---	16	---					
GALR3	8484	broad.mit.edu	37	22	38221118	38221118	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19Q-06A-11D-A197-08	TCGA-ER-A19Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60906421-eead-4324-8f52-47d391bd4894	25ed7029-c9d0-4b0d-8df9-064b77d89bce	g.chr22:38221118delC	uc003aub.1	+	1	773	c.748delC	c.(748-750)ccgfs	p.P250fs		NM_003614	NP_003605	O60755	GALR3_HUMAN	Homo sapiens galanin receptor 3 (GALR3), mRNA.	250					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CTGCTGGGGTCCGCACCACGC	0.771													---	4	---	---	2	---