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
FGFRL1	53834	broad.mit.edu	37	4	1018798	1018798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:1018798C>T	uc003gce.3	+	6	1339	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	FGFRL1_uc003gcf.3_Missense_Mutation_p.T393I|FGFRL1_uc003gcg.3_Missense_Mutation_p.T393I|FGFRL1_uc010ibo.3_Missense_Mutation_p.T393I	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	393					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATCCTGGGCACCCTGCTCCTG	0.736000														43			9		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874336	90874336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:90874336G>A	uc003hst.3	+	7	3525	c.3454G>A	c.(3454-3456)Gag>Aag	p.E1152K	MMRN1_uc010iku.3_Missense_Mutation_p.E455K|MMRN1_uc011cds.2_Missense_Mutation_p.E894K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1152	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTACACCATCGAGTCATTTAG	0.338000														62			5		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132236	15132236	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:15132236A>G	uc002nae.2	+	3	1045	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	316					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAAATGGCAAAGAACGAGGT	0.602000														53			8		0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221002	55221002	+	RNA	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55221002C>T	uc002qgs.1	+	0		c.1402C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GTCCCTTGTCCCTGGCCCTGT	0.557000														4			3		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255502	71255502	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:71255502C>T	uc011cas.2	+	2	258	c.177C>T	c.(175-177)atC>atT	p.I59I	SMR3A_uc003hfh.3_Silent_p.I59I	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	63	Pro-rich.					extracellular region		p.Y58Y(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CAGGGAGAATCCCACCTCCTC	0.597000														87			12		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17426838	17426838	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:17426838G>A	uc003ncb.3	+	2	382	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.E47K|CAP2_uc011djb.2_Missense_Mutation_p.E47K|CAP2_uc011djc.2_Missense_Mutation_p.E47K|CAP2_uc011djd.2_Missense_Mutation_p.E47K	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	47					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACCCTCCGTGGAAGCCTTTGA	0.532000														91			10		0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078010	46078010	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:46078010G>A	uc002zft.3	+	0	162	c.114G>A	c.(112-114)gtG>gtA	p.V38V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	38	14 X 5 AA approximate repeats.					intermediate filament		p.P37P(2)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCATGCCCGTGAGCTGCACGC	0.642000														165			42		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373008	24373009	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:24373008_24373009CC>TT	uc002dmf.3	+	3	1974_1975	c.772_773CC>TT	c.(772-774)cct>TTt	p.P258F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	258					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCACACCATCCCTTCCACTGAC	0.594000														108			7		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621152	8621152	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:8621152G>A	uc003glm.3	+	10	1941	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.K578K|CPZ_uc003gln.3_Silent_p.K452K	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	589					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGACCCAAGAACTTTATTC	0.632000														58			6		0	0	1	0	0
CRHBP	1393	broad.mit.edu	37	5	76264643	76264643	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:76264643T>G	uc003ker.3	+	6	1182	c.902T>G	c.(901-903)cTg>cGg	p.L301R		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	301					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TATCGTCAGCTGGAGCCGTAC	0.458000														60			11		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55518436	55518436	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:55518436G>A	uc001cyf.2	+	4	1133	c.771G>A	c.(769-771)ggG>ggA	p.G257G	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	257	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACTGCCAAGGGAAGGGCACGG	0.672000														67			5		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732109	8732109	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:8732109C>T	uc002glq.1	-	10	1328	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	363					platelet activation	cytosol											CAGCCCGGCTCGCTCCATCTC	0.677000														25			6		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576658	71576658	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:71576658C>T	uc002shx.3	+	1	897	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	ZNF638_uc010fec.2_Nonsense_Mutation_p.Q298*|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Nonsense_Mutation_p.Q192*|ZNF638_uc002shz.3_Nonsense_Mutation_p.Q192*|ZNF638_uc002shy.3_Nonsense_Mutation_p.Q192*|ZNF638_uc002sia.3_Nonsense_Mutation_p.Q192*|ZNF638_uc002sib.1_Nonsense_Mutation_p.Q192*	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	192					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTTACCTTCTCAGAGCAGAAA	0.388000														42			18		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	79174652	79174652	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:79174652C>T	uc003dqe.2	-	2	334	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	42					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGGATTGGCGTCCCGTGGT	0.507000														16			6		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:24921998G>A	uc001ywo.3	+	0	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	328	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.R328K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGCAAAAGGAAAATGTCGA	0.587000														63			11		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70965090	70965090	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:70965090C>T	uc003pfg.4	-	21	1666	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	COL9A1_uc003pfe.4_Missense_Mutation_p.D76N|COL9A1_uc003pff.4_Missense_Mutation_p.D260N	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	503	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTCCTTGATCACCCTGTATG	0.368000														85			12		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054898	18054898	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:18054898G>A	uc001mnp.2	-	2	351	c.325C>T	c.(325-327)Cca>Tca	p.P109S	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	109					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATCTTCTTTGGAAACCAAGGA	0.308000														169			22		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:151896231A>G	uc004fgb.3	-	3		c.548T>C						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGGCTGGATAGTGTTGGC	0.517000														29			5		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145536944	145536944	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:145536944C>T	uc001eoa.3	+	17	2400	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	ITGA10_uc010oyv.2_Missense_Mutation_p.S644L|ITGA10_uc009wiw.3_Missense_Mutation_p.S632L|ITGA10_uc010oyw.2_Missense_Mutation_p.S720L	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	775					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATGAGGGCTCACCCACCTCT	0.542000														88			47		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96106293	96106293	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:96106293G>A	uc001kjq.1	-	10	1366	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	NOC3L_uc009xuk.1_Silent_p.C211C	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	426						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGATTCTTAGGCATAAAAATG	0.244000														18			5		0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121556316	121556316	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:121556316T>G	uc001leo.3	+	6	975	c.759T>G	c.(757-759)gaT>gaG	p.D253E		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	253	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AATCATCTGATGATGAGAAAA	0.453000														50			16		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26862089	26862089	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:26862089C>T	uc010crm.3	+	7	1698	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	FOXN1_uc002hbj.3_Silent_p.S500S	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	500					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCACCCAGCCACAGTGCCA	0.667000														44			6		0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123381	135123381	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135123381C>T	uc021qbf.1	+	1	176	c.134C>T	c.(133-135)tCc>tTc	p.S45F	TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.S110F|ZNF511_uc001lml.1_Missense_Mutation_p.S110F	NM_145806	NP_665805	Q8NB15	ZN511_HUMAN	Homo sapiens zinc finger protein 511 (ZNF511), mRNA.	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AATGTTTGCTCCTTTTGCAAG	0.617000														53			16		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490046	65490046	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:65490046G>A	uc002aon.2	-	8	2759	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	860					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCGTCCGACGGTAGTTGAGC	0.532000														95			16		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217124388	217124388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:217124388C>T	uc002vgb.3	-	3	2647	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	294						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGGGTCCTTCATGGATGATG	0.517000														34			5		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117836069	117836069	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:117836069C>T	uc004bjj.4	-	9	3439	c.3027G>A	c.(3025-3027)ttG>ttA	p.L1009L	TNC_uc010mvf.3_Silent_p.L1009L|TNC_uc022bmj.1_Silent_p.L1009L	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1009	Fibronectin type-III 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAAATTTGGCCAACGGTGTCT	0.552000														44			10		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187173218	187173218	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:187173218T>G	uc003iyy.3	+	10	1263	c.1192T>G	c.(1192-1194)Tct>Gct	p.S398A	KLKB1_uc011clc.2_Missense_Mutation_p.S196A|KLKB1_uc011cld.2_Missense_Mutation_p.S360A	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	398	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.S397C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AACAAACTCTTCTTGGGGAGA	0.517000														73			26		0	0	1	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146030138	146030138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:146030138C>T	uc011dbv.2	-	6	1034	c.771G>A	c.(769-771)tgG>tgA	p.W257*	PPP2R2B_uc010jgm.3_Nonsense_Mutation_p.W188*|PPP2R2B_uc003loe.3_Nonsense_Mutation_p.W199*|PPP2R2B_uc003log.4_Nonsense_Mutation_p.W199*|PPP2R2B_uc003lof.4_Nonsense_Mutation_p.W199*|PPP2R2B_uc003loi.4_Nonsense_Mutation_p.W202*|PPP2R2B_uc003loh.4_Nonsense_Mutation_p.W199*|PPP2R2B_uc003lok.4_Nonsense_Mutation_p.W188*|PPP2R2B_uc003loj.4_Nonsense_Mutation_p.W179*|PPP2R2B_uc011dbu.2_Nonsense_Mutation_p.W205*	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	199					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.A257V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAAGTTCCATAGGTTAA	0.413000														35			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773411	141773411	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:141773411C>T	uc002tvj.1	-	12	3016	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	682					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAATCCATCCATCCAGGCC	0.413000										TSP Lung(27;0.18)				51			19		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				145			30		1.08312e-15	1.1188e-15	1	1	0
PRL	5617	broad.mit.edu	37	6	22287667	22287667	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:22287667G>A	uc003ndp.3	-	4	1167	c.648C>T	c.(646-648)ctC>ctT	p.L216L	PRL_uc003ndo.3_Silent_p.L217L|PRL_uc003ndq.3_Silent_p.L216L	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	216					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGCACTTCAGGAGCTTGAGAT	0.448000														106			28		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130465754	130465754	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:130465754C>G	uc003qbw.3	-	11	1802	c.1474G>C	c.(1474-1476)Gaa>Caa	p.E492Q	SAMD3_uc003qbx.3_Missense_Mutation_p.E492Q	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	492										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ATCAGCGTTTCTAGGAAGTTG	0.428000														50			12		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823568	38823568	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:38823568G>A	uc003avs.1	-	1	667	c.570C>T	c.(568-570)caC>caT	p.H190H	KCNJ4_uc003avt.1_Silent_p.H190H|KCNJ4_uc021wpp.1_Silent_p.H190H	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	190					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.H189P(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AAATGACCGCGTGGTGGCTGA	0.642000														51			47		0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54062946	54062946	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:54062946G>A	uc001sec.3	-	3	601	c.468C>T	c.(466-468)atC>atT	p.I156I	ATP5G2_uc001sed.3_Silent_p.I115I|ATP5G2_uc009znc.3_Silent_p.I99I	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) (ATP5G2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	99					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CATAACCAATGATGAGGCTCC	0.502000														73			15		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374260	39374260	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39374260G>A	uc010hhr.2	+	1	576	c.438G>A	c.(436-438)acG>acA	p.T146T	CCR8_uc003cjm.2_Silent_p.T63T|CCR8_uc021wwe.1_Silent_p.T146T	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	146					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.R145R(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGGTGAGGACGATCAGGATGG	0.507000														195			38		0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37664330	37664330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:37664330G>A	uc004ddr.2	+	9	1284	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	CYBB_uc011mkf.1_Missense_Mutation_p.G376E|CYBB_uc011mkg.1_Missense_Mutation_p.G141E	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	408			G -> E (in XCGD).|G -> R (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ATGTTAGTGGGAGCAGGGATT	0.488000														43			15		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173839	7173839	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:7173839G>A	uc001qsj.3	+	10	1608	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	C1S_uc001qsk.3_Missense_Mutation_p.E297K|C1S_uc001qsl.3_Missense_Mutation_p.E297K|C1S_uc009zfr.3_Missense_Mutation_p.E130K|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	297	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGCCCTAAGGAAGACACTCC	0.423000														42			3		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68113761	68113762	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:68113761_68113762CC>TT	uc003xxo.2	-	36	5597_5598	c.5207_5208GG>AA	c.(5206-5208)cgg>cAA	p.R1736Q	ARFGEF1_uc003xxl.1_Missense_Mutation_p.R1190Q|ARFGEF1_uc003xxm.2_Missense_Mutation_p.R139Q|ARFGEF1_uc003xxn.2_Missense_Mutation_p.R681Q|ARFGEF1_uc003xxp.1_5'UTR	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1736					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCATGTACATCCGGAAGAGAAT	0.525000														73			8		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50857295	50857295	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:50857295G>A	uc003blb.2	+	8	1041	c.619_splice	c.e8-1	p.R207_splice	PPP6R2_uc003blc.3_Splice_Site_p.R207_splice|PPP6R2_uc003bky.2_Splice_Site_p.R207_splice|PPP6R2_uc003bla.2_Splice_Site_p.R207_splice|PPP6R2_uc003bkz.2_Splice_Site_p.R207_splice	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	207						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGTCTTTTCAGAGGCAGTCAA	0.567000														154			12		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344598	20344598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:20344598C>T	uc001vwh.1	+	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTACACTCTCCTATGTATTT	0.398000														309			27		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352589	103352589	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:103352589C>T	uc001dum.3	-	62	4986	c.4668G>A	c.(4666-4668)caG>caA	p.Q1556Q	COL11A1_uc001duk.3_Silent_p.Q740Q|COL11A1_uc001dul.3_Silent_p.Q1544Q|COL11A1_uc001dun.3_Silent_p.Q1505Q|COL11A1_uc009weh.3_Silent_p.Q1428Q	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1544	Nonhelical region (C-terminal).				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)		TTGGTAAAGGCTGAATGACTT	0.373000														99			16		0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36638148	36638148	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:36638148C>T	uc001bzz.3	+	3	760	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	MAP7D1_uc001caa.3_Silent_p.L182L|MAP7D1_uc001cab.3_Silent_p.L182L|MAP7D1_uc001cac.3_5'UTR	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	182						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)				CCGGCGCCGGCTGGAGGAGCA	0.647000														39			9		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178919220	178919220	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:178919220C>T	uc003fjk.3	+	3	862	c.705C>T	c.(703-705)tcC>tcT	p.S235S		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	235	PI3K-RBD.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGTTGCTATCCTCTGAACAAC	0.353000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				64			11		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982373	57982373	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:57982373A>G	uc010rkc.2	+	0	157	c.157A>G	c.(157-159)Att>Gtt	p.I53V		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I53V(2)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGTCACTGTGATTGGGAACGG	0.448000														159			6		0	0	1	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101954	46101954	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:46101954C>T	uc002zfv.3	-	0	125	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181686	NP_859014	P59990	KR121_HUMAN	Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA.	29	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GACTGGCAGCCCACGGGGATG	0.687000														84			19		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362176	133362176	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:133362176G>A	uc003eps.3	-	11	2021	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	630	BRCT 4.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GAGAGGATTCGACTTTGGATC	0.378000								Other conserved DNA damage response genes						34			7		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962520	10962520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:10962520G>A	uc001qyx.3	-	0	248	c.155C>T	c.(154-156)gCc>gTc	p.A52V	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	52					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTGGAGATGGCCAAGCTGAT	0.408000														86			19		0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170480	63170480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:63170480G>A	uc001jlo.2	-	5	1076	c.707C>T	c.(706-708)tCt>tTt	p.S236F	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	236						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CTCTGTCACAGACACAGGGCA	0.483000														35			11		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22710798	22710798	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:22710798C>T	uc002yld.2	+	7	1237	c.988C>T	c.(988-990)Cca>Tca	p.P330S	NCAM2_uc011acb.2_Missense_Mutation_p.P188S|NCAM2_uc011acc.2_Missense_Mutation_p.P355S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	330	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGAGCCTATTCCAGAAATCAC	0.403000														32			15		0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57467129	57467129	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:57467129G>A	uc003pdx.3	+	11	1154	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	357					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGAAAGGAAGGCAAGAGGACA	0.408000														55			4		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153634	2153634	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:2153634G>A	uc002cos.1	-	22	8633	c.8424C>T	c.(8422-8424)atC>atT	p.I2808I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.I2808I|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2808	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAGCCTCGGGGATGGAGAAGT	0.652000														94			17		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31571176	31571176	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:31571176C>T	uc002rnv.1	-	27	3184	c.3105G>A	c.(3103-3105)ggG>ggA	p.G1035G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1035					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTCAGTCCCCCCGTGGGTCA	0.507000														50			6		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160802334	160802334	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:160802334G>A	uc009wtq.3	-	7	1232	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	CD244_uc001fxa.3_Missense_Mutation_p.S331F|CD244_uc009wtr.3_Missense_Mutation_p.S239F|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	336					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTATTGAAGGAAGGGCTGTG	0.433000														41			24		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47887450	47887450	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:47887450G>A	uc002xui.3	-	2	1146	c.899C>T	c.(898-900)aCt>aTt	p.T300I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	300							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCAATGATAGTCTGTACCTT	0.493000														139			35		0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59575316	59575316	+	Missense_Mutation	SNP	G	A	A	rs34696253		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:59575316G>A	uc001noh.2	-	2	342	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_017840	NP_060310	Q9NX20	RM16_HUMAN	Homo sapiens mitochondrial ribosomal protein L16 (MRPL16), nuclear gene encoding mitochondrial protein, mRNA.	43							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TTCAGGAATGGAAACATCTAA	0.348000														100			6		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22574028	22574028	+	Missense_Mutation	SNP	G	A	A	rs117611736	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:22574028G>A	uc001wdb.2	+	1	285	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron					SubName: Full=cDNA FLJ59026;																		AAGAAAGGACGAATAAGTGCC	0.433000														19			4		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53902879	53902879	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:53902879G>A	uc003dhd.3	-	12	1843	c.1742C>T	c.(1741-1743)cCc>cTc	p.P581L	ACTR8_uc003dhb.3_Missense_Mutation_p.P286L|ACTR8_uc003dhc.3_Missense_Mutation_p.P470L	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	581					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AATCAGCCGGGGGTCCATGTC	0.483000														42			3		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1732637	1732637	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:1732637A>C	uc003gdo.3	+	4	1564	c.1409A>C	c.(1408-1410)gAg>gCg	p.E470A	TACC3_uc010ibz.3_Missense_Mutation_p.E470A|TACC3_uc003gdp.3_Missense_Mutation_p.E110A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	470						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCCTCAGCGGAGGACACGCCT	0.647000														51			7		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417506	40417506	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:40417506C>T	uc003ayk.1	+	3	1086	c.992C>T	c.(991-993)tCa>tTa	p.S331L		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	331										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GCCTTGGTGTCAGGCTGCCGC	0.682000														84			61		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901372	52901372	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:52901372T>G	uc010ugf.2	-	4	1894	c.1760A>C	c.(1759-1761)cAt>cCt	p.H587P	FAM214A_uc002acg.4_Missense_Mutation_p.H580P|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.H492P	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	580																	TCTTGTTTGATGTTTCAAAGA	0.313000														53			4		0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526493	26526493	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:26526493G>A	uc010oez.2	+	6	931	c.931G>A	c.(931-933)Gag>Aag	p.E311K	CATSPER4_uc010oey.1_Missense_Mutation_p.E133K|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	311					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAACCTGGAGCAAATGAT	0.517000														19			6		0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74197909	74197909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:74197909C>T	uc003ubb.3	+	6	686	c.616C>T	c.(616-618)Cca>Tca	p.P206S	NCF1_uc010lbs.1_3'UTR|NCF1_uc011kfh.1_3'UTR	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	206	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						AGGCTGGATCCCAGCGTCCTT	0.642000														71			10		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13862671	13862671	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:13862671G>A	uc003jfd.2	-	28	4824	c.4782C>T	c.(4780-4782)tcC>tcT	p.S1594S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1594	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCTCAGTAGGGATCCCAGCA	0.423000									Kartagener syndrome					63			10		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124855614	124855614	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:124855614G>A	uc011lyl.2	-	0	272	c.84C>T	c.(82-84)tcC>tcT	p.S28S	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc004blt.1_Silent_p.S28S|TTLL11_uc004blu.1_Silent_p.S28S	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	28					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GTCCGGGAAGGGACAATCGCC	0.687000														16			5		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41730107	41730107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:41730107G>A	uc003thq.3	-	1	657	c.422C>T	c.(421-423)tCc>tTc	p.S141F	INHBA_uc003thr.3_Missense_Mutation_p.S141F	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	141					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCTTCCTTGGAAATCTCGAA	0.507000										TSP Lung(11;0.080)				35			7		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37514986	37514986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:37514986G>A	uc011mkd.2	+	1	921	c.619G>A	c.(619-621)Gac>Aac	p.D207N	LANCL3_uc004ddp.2_Missense_Mutation_p.D207N	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	207							catalytic activity			lung(4)|pancreas(1)	5						GGCAATTCTGGACTCTGGGAA	0.433000														25			9		0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23517518	23517518	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:23517518G>A	uc001wil.3	-	12	2391	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	CDH24_uc010akf.3_Missense_Mutation_p.P673S	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	711					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggcgccgggggggccgccccg	0.761000														111			16		0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	50941337	50941337	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:50941337G>A	uc001cse.1	-	17	2121	c.1668C>T	c.(1666-1668)tcC>tcT	p.S556S	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Silent_p.S314S	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	556					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity	p.S556S(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTTGCTCTAAGGACAGCCGGA	0.542000														36			7		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122514	153122514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:153122514C>T	uc021ozu.1	-	0	73	c.73G>A	c.(73-75)Gag>Aag	p.E25K	SPRR2G_uc009wod.2_Missense_Mutation_p.E25K	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	25	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACATGGCTCTGGGCACTTT	0.592000														78			39		0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58030949	58030949	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:58030949G>A	uc002emx.1	-	1	1844	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	ZNF319_uc021tjd.1_Silent_p.G407G	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						ATTGGTCAAAGCCTTTCTGGC	0.637000														57			15		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852466	40852466	+	Silent	SNP	C	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:40852466C>A	uc003jmg.3	+	2	1107	c.1032C>A	c.(1030-1032)atC>atA	p.I344I		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	344					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGGATTCAATCCTCAGTCACA	0.468000														44			4		0.00909568	0.00912994	1	1	0
PREX1	57580	broad.mit.edu	37	20	47260957	47260957	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:47260957C>T	uc002xtw.1	-	26	3614	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E	PREX1_uc002xtv.1_Silent_p.E494E	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1197					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGACCCCATCTCGTCGCTGC	0.532000														31			13		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23890239	23890239	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:23890239A>C	uc001wjx.3	-	25	3370	c.3264T>G	c.(3262-3264)aaT>aaG	p.N1088K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1088					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGTTGAGAGCATTCAGCTCAA	0.557000														43			7		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389642	20389642	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:20389642G>A	uc010tkw.2	+	0	877	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292T(1)		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)		AAGGAATAGGGATATGAAGGC	0.398000														142			18		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4647090	4647090	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4647090C>G	uc002fyu.2	+	5	1356	c.1326C>G	c.(1324-1326)gaC>gaG	p.D442E	ZMYND15_uc002fyv.2_Missense_Mutation_p.D442E|ZMYND15_uc002fyt.2_Missense_Mutation_p.D442E	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	442							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCAGGGAGACGGGACTGCCC	0.632000														39			9		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540967	28540967	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:28540967G>A	uc003nlo.3	-	3	3317	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	900					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						aagttgcaatgaaaaatactt	0.333000														38			7		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788703	113788703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:113788703G>A	uc002tiq.1	-	2	147	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	IL36B_uc002tir.1_Missense_Mutation_p.R15C	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CGAGAATCACGAATAGCATAG	0.473000														41			12		0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151231040	151231040	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:151231040C>T	uc003lut.3	-	6	1110	c.823G>A	c.(823-825)Gat>Aat	p.D275N	GLRA1_uc003lur.3_Missense_Mutation_p.D275N|GLRA1_uc003lus.3_Missense_Mutation_p.D192N	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	275					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTGCAGCATCCATGTTGATC	0.547000														92			13		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057396	9057396	+	Missense_Mutation	SNP	G	T	T	rs141284390	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:9057396G>T	uc003brf.1	-	14	2374	c.1698C>A	c.(1696-1698)gaC>gaA	p.D566E	SRGAP3_uc003brg.1_Missense_Mutation_p.D542E|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	566	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATTTTGATCGTCCACAAGGG	0.448000			T	RAF1	pilocytic astrocytoma									71			8		0.000274275	0.000276872	1	1	0
SEZ6	124925	broad.mit.edu	37	17	27284993	27284993	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:27284993C>T	uc002hdp.2	-	10	2468	c.2274G>A	c.(2272-2274)tgG>tgA	p.W758*	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Nonsense_Mutation_p.W758*|SEZ6_uc002hdq.1_Nonsense_Mutation_p.W633*	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	758	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GGTCCTCACTCCAAGTTAGGT	0.572000														33			9		0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39093555	39093555	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39093555G>A	uc003cit.3	+	0	49	c.39G>A	c.(37-39)agG>agA	p.R13R	WDR48_uc011ayt.1_Silent_p.R13R|WDR48_uc011ayu.1_5'UTR|WDR48_uc011ayv.1_Silent_p.R13R|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	13					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.R13R(2)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGGGCGGAGGAAAGTGCAGG	0.667000														77			16		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56865818	56865818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:56865818G>A	uc002eka.3	+	10	1271	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	NUP93_uc002ekb.3_Missense_Mutation_p.D261N|NUP93_uc010vhi.2_Missense_Mutation_p.D261N	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	384					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GAACAATACAGATCCCTACAA	0.502000														43			13		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157164	155157164	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:155157164G>A	uc003inw.2	-	24	7275	c.7275C>T	c.(7273-7275)ttC>ttT	p.F2425F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2425	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATCTTGAGTGAAAATGGGCT	0.443000														64			10		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254799	24254799	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:24254799C>T	uc003xdz.2	+	5	677	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	ADAMDEC1_uc010lub.2_Missense_Mutation_p.H74Y|ADAMDEC1_uc011lab.1_Missense_Mutation_p.H74Y	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	153					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTTCACACATCATCACCAAAG	0.428000														88			17		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31013451	31013451	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:31013451C>T	uc003aip.2	+	6	1324	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	TCN2_uc003air.2_Silent_p.L332L	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	359					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAAGATGTCCTGAAGAAGGC	0.562000														86			6		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56605224	56605224	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:56605224T>C	uc003dhz.3	+	6	917	c.830T>C	c.(829-831)tTa>tCa	p.L277S	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Missense_Mutation_p.L243S|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	277										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGGTTGCTTTAAAGAAGAAA	0.279000														46			7		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479964	142479964	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:142479964G>A	uc011ksq.2	+	1	179	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCTGTGAGGAGAATTCTGTCC	0.537000														102			31		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739224	119739224	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:119739224G>A	uc002tln.1	+	9	1025	c.893G>A	c.(892-894)gGa>gAa	p.G298E	MARCO_uc010yyf.1_Missense_Mutation_p.G220E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	298	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCTAAAGGAGATCAAGGT	0.433000														63			6		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536259	90536259	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:90536259G>A	uc010mqi.3	+	3	1466	c.1437G>A	c.(1435-1437)caG>caA	p.Q479Q	FAM75C1_uc004apq.4_Silent_p.Q462Q	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TGCAGCTTCAGGATGAATTGC	0.547000														38			7		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692998	135692998	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:135692998G>A	uc003lbn.2	-	1	300	c.78C>T	c.(76-78)atC>atT	p.I26I	TRPC7_uc010jef.2_Silent_p.I17I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.I26I|TRPC7_uc010jei.2_Silent_p.I26I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	26					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGACCCCGGATGGCCTGGC	0.612000														97			9		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107522	133107522	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:133107522G>C	uc001lkp.3	-	1	469	c.383C>G	c.(382-384)cCc>cGc	p.P128R		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	128										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TGTGGAAGAGGGGGGCAGTCC	0.527000														43			13		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15909708	15909708	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:15909708C>G	uc001awv.2	-	1	598	c.455G>C	c.(454-456)gGc>gCc	p.G152A	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	152					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAATACAGCCAGCTGCTAC	0.493000														32			3		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781686	46781686	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:46781686G>A	uc002eei.4	-	0	536	c.420C>T	c.(418-420)ttC>ttT	p.F140F	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	140					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGCATGAGGAAATCCGCCA	0.657000														59			13		0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92679962	92679962	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:92679962C>T	uc001khe.1	-	1	419	c.171G>A	c.(169-171)gaG>gaA	p.E57E		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	57					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TCCACTGTTGCTCCCCCAGGG	0.507000														96			34		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616293	79616293	+	RNA	SNP	G	A	A	rs75976382		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:79616293G>A	uc011ctk.1	-	1		c.1222C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.E87K			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GGCAGGTTTTGAAGAGAAGAT	0.333000														46			11		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83356164	83356164	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:83356164C>T	uc003kio.1	-	8	1511	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	EDIL3_uc003kip.1_Silent_p.V354V|EDIL3_uc011ctt.1_Silent_p.V141V	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	364	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCCAGGCATTCACTTTGCCTT	0.458000														55			16		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78775756	78775756	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:78775756C>T	uc002bdr.2	+	10	1555	c.1393C>T	c.(1393-1395)Cag>Tag	p.Q465*	IREB2_uc010unb.1_Nonsense_Mutation_p.Q215*	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	465							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGCGATTTCCAGGCTTGCTT	0.383000														60			10		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22697781	22697781	+	RNA	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:22697781G>A	uc021wml.1	+	40		c.4326G>A								Parts of antibodies, mostly variable regions.																		AGCCTGTGCTGACTCAGCCAC	0.592000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			3		0	0	1	0	0
RUVBL1	8607	broad.mit.edu	37	3	127816274	127816274	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:127816274G>A	uc003ekh.3	-	7	989	c.885C>T	c.(883-885)gtC>gtT	p.V295V	RUVBL1_uc003ekf.3_Silent_p.V235V|RUVBL1_uc010hss.3_Silent_p.V295V	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	295					CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|cell division|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|membrane|microtubule organizing center|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCACACCCGGGACCAGCTCAG	0.537000														52			12		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47047317	47047317	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:47047317C>T	uc003cqp.3	+	41	6960	c.6781C>T	c.(6781-6783)Cag>Tag	p.Q2261*	NBEAL2_uc010hjm.2_Nonsense_Mutation_p.Q1638*|NBEAL2_uc010hjn.2_Nonsense_Mutation_p.Q657*	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2261	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGACTTCATCCAGCAGCACCG	0.612000														87			9		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012932	189012932	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:189012932C>G	uc011cle.1	-	7	1206	c.984G>C	c.(982-984)agG>agC	p.R328S	TRIML2_uc003izj.1_Missense_Mutation_p.R81S|TRIML2_uc003izk.1_Missense_Mutation_p.R61S|TRIML2_uc003izl.2_Missense_Mutation_p.R253S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	253	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCAGTAGTGCCTCCCTGAGG	0.592000														204			21		0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29891064	29891064	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:29891064G>T	uc010ztm.2	-	1	260	c.260C>A	c.(259-261)tCt>tAt	p.S87Y		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	87					defense response to bacterium	extracellular region		p.D86N(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTGGAGTTAGAGTCGTAATC	0.378000														189			33		2.61193e-14	2.68239e-14	1	1	0
KRT36	8689	broad.mit.edu	37	17	39642765	39642766	+	Missense_Mutation	DNP	GG	AA	AA	rs142512887		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:39642765_39642766GG>AA	uc002hwt.3	-	6	1266_1267	c.1266_1267CC>TT	c.(1264-1269)gtcccc>gtTTcc	p.P423S		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	423	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGCACCGGGGGGACAGAAGGAA	0.579000														14			7		0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229433229	229433229	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:229433229C>T	uc001hth.3	+	5	499	c.291_splice	c.e5-1	p.S97_splice		NM_004578	NP_004569	P20338	RAB4A_HUMAN	Homo sapiens RAB4A, member RAS oncogene family (RAB4A), mRNA.	92							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TATTACGCAGCCGAGAAACCT	0.393000														68			31		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975189	118975189	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:118975189G>A	uc003ibx.3	+	1	527	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NDST3_uc011cgf.1_Missense_Mutation_p.E42K|NDST3_uc003ibw.3_Missense_Mutation_p.E42K	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	42	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACAGGAAAATGAACTCTCTGA	0.423000														84			15		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805146	54805146	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:54805146G>A	uc003pck.3	+	4	1493	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	459										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAGACAGGAATTCAAATG	0.458000														60			10		0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17131214	17131214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:17131214C>T	uc002gra.4	-	3	742	c.238G>A	c.(238-240)Gac>Aac	p.D80N	PLD6_uc010cpn.3_Intron|FLCN_uc002grb.4_Missense_Mutation_p.D80N|FLCN_uc002grc.2_Missense_Mutation_p.D80N	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	80					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TCGCACATGTCCGACTTTTTG	0.617000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					79			19		0	0	1	0	0
KLHL35	283212	broad.mit.edu	37	11	75136525	75136525	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:75136525C>T	uc001owm.2	-	3	1287	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	209										lung(2)|stomach(1)	3						AGCTCACGGCCTCCGGGAGGG	0.736000														17			3		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515462	56515462	+	Silent	SNP	A	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:56515462A>C	uc001sjp.1	+	2	1305	c.1116A>C	c.(1114-1116)acA>acC	p.T372T	ZC3H10_uc021qyw.1_Silent_p.T372T	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	372	Pro-rich.						nucleic acid binding|zinc ion binding	p.Q371E(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCTCAAACAATTGCCCAGG	0.617000														49			17		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307329	54307329	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:54307329G>A	uc002qcj.4	-	5	2685	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	NLRP12_uc010eqw.3_Missense_Mutation_p.S104F|NLRP12_uc002qch.4_Missense_Mutation_p.S821F|NLRP12_uc002qci.4_Missense_Mutation_p.S821F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.S822F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	821					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGAGCACAGAAGCCATCTC	0.557000														39			6		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49764692	49764692	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:49764692G>A	uc002efs.3	-	3	565	c.267C>T	c.(265-267)cgC>cgT	p.R89R		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	89					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTCCAGGACAGCGGTGGGCCC	0.512000														92			16		0	0	1	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178926	74178926	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:74178926C>T	uc002avz.3	+	7	833	c.750C>T	c.(748-750)tcC>tcT	p.S250S	TBC1D21_uc010ulc.2_Silent_p.S214S	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	250	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTCAAGTCCTTCGATGATG	0.592000														29			4		0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166515	34166515	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:34166515C>T	uc021wik.1	-	0	218	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Missense_Mutation_p.R73Q|C21orf62_uc011adt.2_Missense_Mutation_p.R73Q|C21orf62_uc011adu.2_Missense_Mutation_p.R73Q	NM_019596	NP_062542	Q9NYP8	CU062_HUMAN	Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA.	73										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTAGCTGGTTCGCTCTACTGC	0.547000														77			20		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003865	122003865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:122003865G>A	uc003eew.4	+	6	3532	c.3094G>A	c.(3094-3096)Gac>Aac	p.D1032N	CASR_uc003eev.4_Missense_Mutation_p.D1022N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1022					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGGGAAACGGACTTAGATCT	0.592000														75			14		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71491666	71491666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:71491666C>T	uc004agu.3	+	5	579	c.274C>T	c.(274-276)Cga>Tga	p.R92*	PIP5K1B_uc011lrq.2_Nonsense_Mutation_p.R92*|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	92	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTAGCATTCCGATATTTCAG	0.373000														38			13		0	0	1	0	0
SPDYA	245711	broad.mit.edu	37	2	29072743	29072743	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:29072743G>A	uc002rmj.3	+	7	1084	c.878G>A	c.(877-879)gGa>gAa	p.G293E	SPDYA_uc002rmk.3_Missense_Mutation_p.G293E|TRMT61B_uc002rmm.3_3'UTR	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	293					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCAAATAAAGGAAAGAAAACT	0.289000														26			6		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515383	51515383	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:51515383C>T	uc010ric.2	+	0	102	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCATCTATATCATCACTGTGG	0.438000														140			32		0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10585542	10585542	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:10585542C>T	uc001miv.2	-	2	628	c.342G>A	c.(340-342)ctG>ctA	p.L114L	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Intron	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	114	Link.				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		CCTTCCAAATCAGGACACCCA	0.488000														52			10		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102337669	102337669	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:102337669C>T	uc003pqp.4	+	10	1972	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	GRIK2_uc003pqn.3_Missense_Mutation_p.S560F|GRIK2_uc010kcw.3_Missense_Mutation_p.S560F|GRIK2_uc003pqo.4_Missense_Mutation_p.S560F|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	560					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATCCTCTCTCCCCTGATATC	0.443000														145			28		0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17311587	17311587	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:17311587G>C	uc010eak.3	+	25	4664	c.4512G>C	c.(4510-4512)caG>caC	p.Q1504H	MYO9B_uc002nfi.3_Missense_Mutation_p.Q1504H|MYO9B_uc002nfj.1_Missense_Mutation_p.Q1504H|MYO9B_uc002nfl.1_Missense_Mutation_p.Q53H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1504	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTTCCGCCAGATCACCAACG	0.577000														69			18		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566278	5566278	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:5566278C>T	uc010qzh.2	-	0	476	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGCTTCGAAAGGAGAT	0.463000														45			14		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142199133	142199133	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:142199133G>A	uc003yvy.3	+	18	3171	c.2893G>A	c.(2893-2895)Gac>Aac	p.D965N	DENND3_uc010mep.3_Missense_Mutation_p.D926N|DENND3_uc003ywa.1_Missense_Mutation_p.D15N|DENND3_uc003ywb.3_Missense_Mutation_p.D15N	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	965										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTCGGAAGACTCCGTCAT	0.542000														40			13		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520547	33520547	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:33520547C>T	uc002hjd.2	-	0	866	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	260						integral to membrane											AGGCGAGGATCCCCACTGCCC	0.642000														111			24		0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49696553	49696553	+	Missense_Mutation	SNP	C	T	T	rs113164514		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:49696553C>T	uc021zai.1	-	7	785	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	CRISP3_uc003ozs.3_Missense_Mutation_p.E223K	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	210					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAGAGATCTTCGTACTTGCAA	0.358000														58			16		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109623477	109623477	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:109623477C>T	uc001tob.3	+	11	2031	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	ACACB_uc001toc.3_Missense_Mutation_p.P638S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	638	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTTGAAACCCCCTCAAACCC	0.567000														44			6		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167962533	167962533	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:167962533C>T	uc001gew.3	+	6	1111	c.758C>T	c.(757-759)tCc>tTc	p.S253F	DCAF6_uc001gex.3_Missense_Mutation_p.S253F|DCAF6_uc010plk.2_Missense_Mutation_p.S222F|DCAF6_uc001gev.3_Missense_Mutation_p.S253F|DCAF6_uc001gey.3_Missense_Mutation_p.S106F	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	253					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATAATAAGTCCTGCAGAGTG	0.363000														30			20		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31642962	31642962	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:31642962G>A	uc001wrc.1	-	4	1143	c.654C>T	c.(652-654)acC>acT	p.T218T		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CACCACGACGGGTAAATCGGT	0.473000														26			9		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:18809378G>A	uc001bax.3	+	0	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000														30			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170013930	170013930	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:170013930G>A	uc002ues.3	-	63	12183	c.11970C>T	c.(11968-11970)tcC>tcT	p.S3990S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358000														15			12		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758401	50758401	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:50758401G>A	uc021vhh.1	-	9	3232	c.2311C>T	c.(2311-2313)Cta>Tta	p.L771L	NRXN1_uc002rxb.4_Silent_p.L443L|NRXN1_uc021vhg.1_Silent_p.L811L|NRXN1_uc021vhi.1_Silent_p.L807L|NRXN1_uc021vhj.1_Silent_p.L767L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	771	Laminin G-like 4.				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)			CCTGCGTCTAGCTCCAGGCGG	0.493000														30			5		0	0	1	0	0
RPL17-C18ORF32	100526842	broad.mit.edu	37	18	47015807	47015807	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:47015807G>A	uc002ldm.2	-	4	442	c.429C>T	c.(427-429)ccC>ccT	p.P143P	C18orf32_uc002ldk.2_5'Flank|C18orf32_uc002ldl.3_5'Flank|RPL17-C18ORF32_uc021ujt.1_Silent_p.P105P|RPL17-C18ORF32_uc021ujv.1_Silent_p.P143P|RPL17-C18ORF32_uc021ujw.1_Silent_p.P143P|RPL17-C18ORF32_uc021ujx.1_Silent_p.P143P|RPL17-C18ORF32_uc021ujy.1_Silent_p.P143P|RPL17-C18ORF32_uc002ldq.3_Silent_p.P143P|RPL17-C18ORF32_uc010xdg.2_Silent_p.P105P|RPL17-C18ORF32_uc002ldp.3_Silent_p.P143P|RPL17-C18ORF32_uc021ujz.1_Silent_p.P143P|SNORD58C_uc002ldr.2_5'Flank	NM_001199355	NP_001186284			Homo sapiens RPL17-C18orf32 readthrough (RPL17-C18ORF32), transcript variant 1, mRNA.																		CAATGTGGCAGGGAGAGCTCA	0.463000														38			14		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:76491047C>T	uc010dhp.2	-	38	6161	c.6036G>A	c.(6034-6036)tcG>tcA	p.S2012S	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000														24			7		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48603041	48603041	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:48603041G>T	uc010xzd.2	-	4	701	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	PLA2G4C_uc002phw.3_Missense_Mutation_p.Q47K|PLA2G4C_uc010elr.3_Missense_Mutation_p.Q112K|PLA2G4C_uc002phx.3_Missense_Mutation_p.Q112K|PLA2G4C_uc002phy.4_Missense_Mutation_p.Q112K	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	112	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.Q121H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCCACTCCTGTCGGGTAAAT	0.493000														162			21		2.39556e-15	2.46493e-15	1	1	0
LOC341056	341056	broad.mit.edu	37	11	122888805	122888805	+	RNA	SNP	C	A	A	rs1461493	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:122888805C>A	uc010rzt.2	+	0		c.532C>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GCATCAAGTTCTTTGCAGGAG	0.398000														82			5		2.7689e-08	2.82184e-08	1	1	0
CSTA	1475	broad.mit.edu	37	3	122060290	122060290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:122060290G>A	uc003eex.3	+	2	302	c.173G>A	c.(172-174)cGa>cAa	p.R58Q		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	58					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity			large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		TTTCAGGTACGAGCAGGTGAT	0.378000														55			11		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334266	37334266	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:37334266A>G	uc003aqa.4	+	13	2633	c.2416A>G	c.(2416-2418)Aca>Gca	p.T806A	CSF2RB_uc003aqc.4_Missense_Mutation_p.T812A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	806					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGTGTCCCCAACATCCCCACA	0.662000														177			13		0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18603946	18603946	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:18603946C>T	uc002dfg.3	+	8	1113	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ABCC6P1_uc010vam.2_Silent_p.L248L					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		CTCGGCCTGCCTGCAAACGCT	0.577000														44			10		0	0	1	0	0
DOK1	1796	broad.mit.edu	37	2	74783860	74783860	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:74783860C>T	uc002sms.3	+	4	1435	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Silent_p.D216D|DOK1_uc010ffo.3_Silent_p.D216D|DOK1_uc002smt.3_Silent_p.D141D|DOK1_uc002smu.3_Silent_p.D141D|DOK1_uc010yrz.2_Silent_p.D344D|DOK1_uc002smw.1_Silent_p.D141D	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	355					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCTGACAGACCCCAAAGAGG	0.572000														68			18		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553183	106553183	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:106553183C>T	uc003prd.2	+	4	1382	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	PRDM1_uc003pre.3_Missense_Mutation_p.T249M	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	383					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T347M(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCCTACGGCACGGAAGGTTTG	0.637000			"""D, N, Mis, F, S"""		DLBCL									101			9		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734875	12734875	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:12734875A>G	uc004cuz.2	+	14	2803	c.2297A>G	c.(2296-2298)aAc>aGc	p.N766S	FRMPD4_uc011mij.2_Missense_Mutation_p.N758S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	766					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGGGAGATGAACCAGCCGGCC	0.562000														118			34		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9859352	9859352	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:9859352G>A	uc003btg.3	+	4	815	c.339G>A	c.(337-339)cgG>cgA	p.R113R	TTLL3_uc003btd.4_Silent_p.R207R|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_5'UTR|TTLL3_uc010hco.1_Silent_p.R49R|TTLL3_uc003bth.4_5'UTR|TTLL3_uc011atj.2_Silent_p.R49R|TTLL3_uc003btj.4_5'UTR|TTLL3_uc003bti.4_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	113					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TCAATCTCCGGAATTTGCCGT	0.532000														160			33		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079561	34079561	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:34079561G>A	uc002hjv.2	-	0	337	c.309C>T	c.(307-309)gcC>gcT	p.A103A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	103	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACCTGGCTGGGCGGCCCCAT	0.622000														97			16		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65928106	65928106	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:65928106T>G	uc002jgf.3	+	17	6291	c.6230T>G	c.(6229-6231)aTt>aGt	p.I2077S	BPTF_uc002jge.3_Missense_Mutation_p.I2203S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2203					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAAAGGCAATTATTCGAACA	0.418000														56			25		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438137	125438137	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:125438137C>T	uc011lzb.2	+	0	729	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCTGCAGCTCCCATCTCACTG	0.428000														28			5		0	0	1	0	0
ALG1L2	644974	broad.mit.edu	37	3	129810128	129810128	+	Silent	SNP	G	A	A	rs6804080	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:129810128G>A	uc011bld.2	+	1	231	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ALG1L2_uc010hth.3_Non-coding_Transcript	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like 2 (ALG1L2), mRNA.	15					biosynthetic process		transferase activity, transferring glycosyl groups										ACGACAAGCCGGCATCTTTCT	0.562000														44			3		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130935	52130935	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:52130935G>A	uc002pxe.3	-	5	1201	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	354					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGGCTCGAAAGGAGCATCTGC	0.667000														21			3		0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20951401	20951401	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:20951401G>A	uc002kuf.3	-	7	578	c.469C>T	c.(469-471)Cac>Tac	p.H157Y	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Intron|TMEM241_uc002kuh.3_Intron	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	157						integral to membrane											CAGAGTAAGTGAATTATAGCC	0.398000														45			3		0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95092199	95092200	+	Silent	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:95092199_95092200GG>AA	uc010afh.3	-	9	2038_2039	c.1611_1612CC>TT	c.(1609-1614)ccccta>ccTTta	p.537_538PL>PL	DCT_uc001vlv.4_Silent_p.504_505PL>PL	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	504					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GTCTCCATTAGGGGTGTATATC	0.455000														66			7		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49152779	49152779	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:49152779G>C	uc003cwd.2	-	11	1914	c.1595C>G	c.(1594-1596)gCt>gGt	p.A532G	USP19_uc003cwa.3_Missense_Mutation_p.A340G|USP19_uc003cwb.3_Missense_Mutation_p.A618G|USP19_uc003cvz.4_Missense_Mutation_p.A635G|USP19_uc011bcg.2_Missense_Mutation_p.A623G|USP19_uc003cwc.2_Missense_Mutation_p.A290G|USP19_uc011bch.2_Missense_Mutation_p.A633G	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	532					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTGATCTCAGCCTCAAAGGA	0.587000														70			13		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132390	124132390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:124132390C>T	uc003ehg.3	+	13	2541	c.2414C>T	c.(2413-2415)aCc>aTc	p.T805I	KALRN_uc010hrv.1_Missense_Mutation_p.T805I|KALRN_uc003ehf.1_Missense_Mutation_p.T805I|KALRN_uc011bjy.1_Missense_Mutation_p.T805I|KALRN_uc003ehh.1_Missense_Mutation_p.T151I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	805					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGACCTAACCCTGGCAGAA	0.537000														37			10		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051719	96051720	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:96051719_96051720CC>TT	uc004ati.1	+	19	4794_4795	c.4794_4795CC>TT	c.(4792-4797)taccag>taTTag	p.Q1599*	WNK2_uc011lud.1_Nonsense_Mutation_p.Q1562*|WNK2_uc004atj.3_Nonsense_Mutation_p.Q1562*|WNK2_uc004atk.3_Nonsense_Mutation_p.Q1199*|WNK2_uc004atl.1_Nonsense_Mutation_p.Q157*	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1599					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCTGCTCTACCAGGAGCACGT	0.678000														31			6		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	226006	226006	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:226006T>G	uc011clv.1	+	4	580	c.465T>G	c.(463-465)aaT>aaG	p.N155K	SDHA_uc003jao.4_Missense_Mutation_p.N155K|SDHA_uc011clw.2_Missense_Mutation_p.N107K|SDHA_uc003jaq.4_5'Flank|SDHA_uc021xvu.1_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	155					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AGCTAGAAAATTATGGCATGC	0.413000									Familial Paragangliomas					128			22		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981585	40981585	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:40981585G>A	uc003jmh.3	+	17	2556	c.2442G>A	c.(2440-2442)acG>acA	p.T814T		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	814	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGCAGACGATGTCTGAGT	0.557000														22			4		0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69204776	69204776	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:69204776A>T	uc002sfc.3	+	2	179	c.116A>T	c.(115-117)aAc>aTc	p.N39I		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	39					digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						CAGAATATCAACGTCAATGAT	0.383000														53			4		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170351479	170351479	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:170351479G>A	uc003mba.3	+	11	1535	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	465					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.F464F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTTATTCGACCAAAATGC	0.418000			T	TRD@	ALL									41			8		0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37687014	37687014	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:37687014C>T	uc010cvv.3	+	13	4504	c.3918C>T	c.(3916-3918)tcC>tcT	p.S1306S	CDK12_uc002hrw.4_Silent_p.S1297S	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1306					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AACTTTTATCCCAGCCTGAAG	0.612000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				194			15		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55921022	55921022	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:55921022T>C	uc002adg.3	-	15	2852	c.2804A>G	c.(2803-2805)aAa>aGa	p.K935R		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	935					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATACAGACCTTTGGCATCAGC	0.418000														51			6		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697248	169697248	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:169697248G>A	uc001ggm.4	-	7	1387	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	410	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGCCACATTGGAGCCTTTTGG	0.443000														103			47		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882514	51882514	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:51882514A>T	uc001rys.1	+	17	2496	c.2318A>T	c.(2317-2319)aAt>aTt	p.N773I	SLC4A8_uc001rym.3_Missense_Mutation_p.N720I|SLC4A8_uc001ryn.3_Missense_Mutation_p.N720I|SLC4A8_uc001ryo.2_Missense_Mutation_p.N720I|SLC4A8_uc010snj.2_Missense_Mutation_p.N800I|SLC4A8_uc001ryr.3_Missense_Mutation_p.N773I	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	773					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGATTATTAATCCCATTGGC	0.408000														96			13		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22035615	22035615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:22035615C>T	uc010gtj.1	+	6	439	c.323C>T	c.(322-324)aCc>aTc	p.T108I	PPIL2_uc002zvh.4_Missense_Mutation_p.T108I|PPIL2_uc002zvi.4_Missense_Mutation_p.T108I|PPIL2_uc002zvg.4_Missense_Mutation_p.T108I|PPIL2_uc011aij.2_Missense_Mutation_p.T87I	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	108					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GTGCTGTTTACCGTGTTCACC	0.607000														90			8		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69933964	69933965	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:69933964_69933965GG>AA	uc001opj.3	+	1	520_521	c.215_216GG>AA	c.(214-216)agg>aAA	p.R72K	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.R44K	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	72					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CATCACAAGAGGCCCTCGGGCA	0.644000														29			9		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145278100	145278100	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:145278100C>T	uc003zbk.4	+	13	1542	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	HEATR7A_uc011lla.1_Silent_p.I435I|HEATR7A_uc010mft.3_Silent_p.I435I	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	435							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						TCGAGTACATCGTGCAGCAGT	0.662000														13			3		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75107119	75107119	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:75107119C>T	uc001dgg.3	-	4	559	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	114										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGTTATTTTCAACAGACCTT	0.428000														52			9		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2604736	2604736	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:2604736C>T	uc001lwn.3	+	6	1101	c.993C>T	c.(991-993)tgC>tgT	p.C331C	KCNQ1_uc009ydp.1_Silent_p.C115C|KCNQ1_uc001lwo.3_Silent_p.C204C	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	331					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCGCCTCCTGCTTCTCTGTCT	0.632000														106			28		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74303630	74303630	+	Splice_Site	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:74303630G>C	uc001ovf.1	+	1	1	c.-74_splice	c.e1-1		POLD3_uc009yua.1_Splice_Site	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.						DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AGGGAGCAAAGACGTTTCCCG	0.647000														23			6		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46976845	46976845	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:46976845C>T	uc003oyt.3	-	10	2525	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	GPR110_uc011dwl.2_Missense_Mutation_p.E464K	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTCAGTCTTTCCCCAACAGTC	0.562000														44			12		0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55063015	55063015	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:55063015G>A	uc001cxm.2	+	6	867	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	ACOT11_uc001cxj.2_Missense_Mutation_p.A109T|ACOT11_uc001cxk.3_Missense_Mutation_p.A197T|ACOT11_uc001cxl.2_Missense_Mutation_p.A231T	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	231	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GCCTCCCCACGCCAATCACCA	0.622000														31			5		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90417139	90417139	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:90417139G>A	uc003pnn.1	-	51	8071	c.7955C>T	c.(7954-7956)tCt>tTt	p.S2652F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2652					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTACCAACAGAAACCAAATT	0.348000														48			7		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110432829	110432829	+	Silent	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:110432829T>C	uc003yne.3	+	22	2711	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	869					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAAAACAAATGGGCCAACTA	0.373000										HNSCC(38;0.096)				63			19		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891541	18891541	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:18891541G>A	uc001rdy.3	+	0	497	c.339G>A	c.(337-339)gaG>gaA	p.E113E	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	113					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TTCAGAATGAGGCAGAATACC	0.373000														52			10		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228399631	228399632	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:228399631_228399632GG>AA	uc009xez.1	+	1	191_192	c.147_148GG>AA	c.(145-150)ccggtg>ccAAtg	p.V50M	OBSCN_uc001hsn.3_Missense_Mutation_p.V50M|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	50	Ig-like 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCAGCAGCCGGTGGCGGCCGG	0.683000														12			5		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37440439	37440439	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:37440439C>T	uc002ofc.3	+	6	902	c.384C>T	c.(382-384)atC>atT	p.I128I	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Silent_p.I127I|ZNF568_uc002ofd.3_Silent_p.I64I|ZNF568_uc010efe.3_Silent_p.I64I|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	128				I -> V (in Ref. 1; CAE45810).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAACAGATCAAGAAGCAAC	0.323000														26			3		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490692	111490692	+	Silent	SNP	T	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:111490692T>A	uc001eaa.3	-	3	2455	c.2199A>T	c.(2197-2199)ccA>ccT	p.P733P	LRIF1_uc001dzz.3_Silent_p.P197P|LRIF1_uc001eab.3_Silent_p.P197P	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTAACTCCGGTGGTGTCACTG	0.373000														93			10		0	0	1	0	0
ZNRF1	84937	broad.mit.edu	37	16	75127483	75127483	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:75127483C>T	uc010cgr.1	+	1	1093	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNRF1_uc010vmz.1_Silent_p.P146P|ZNRF1_uc002fdk.3_Silent_p.P146P|ZNRF1_uc002fdl.1_Silent_p.P146P	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA.	146						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TCAAGTGCCCCATTTGCTCCA	0.478000														78			23		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16872782	16872782	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:16872782G>A	uc010rcu.1	-	7	667	c.652C>T	c.(652-654)Cct>Tct	p.P218S	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P218S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	218	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGGCCACAGGAGAGATCACG	0.502000														83			22		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836014	73836014	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:73836014T>A	uc002jpp.3	-	11	1341	c.961A>T	c.(961-963)Acc>Tcc	p.T321S	UNC13D_uc010wsk.1_Missense_Mutation_p.T321S|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.T118S	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	321	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCAGGAGGTGCTTCCCGCC	0.662000									Familial Hemophagocytic Lymphohistiocytosis					58			10		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160755341	160755341	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:160755341C>T	uc002ubb.4	-	1	398	c.324G>A	c.(322-324)tgG>tgA	p.W108*	LY75-CD302_uc010fos.3_Nonsense_Mutation_p.W108*|LY75-CD302_uc002ubc.4_Nonsense_Mutation_p.W108*|LY75-CD302_uc010fot.2_Nonsense_Mutation_p.W108*	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	108	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GCTCACATTTCCACCACAGCA	0.502000														50			9		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110274	17110274	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:17110274C>T	uc001ioo.3	-	20	2849	c.2797G>A	c.(2797-2799)Gga>Aga	p.G933R		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	933	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAATTTCTCCACATGCTGTT	0.373000														45			10		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64802570	64802570	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:64802570C>T	uc001oci.4	+	7	1066	c.412C>T	c.(412-414)Cta>Tta	p.L138L	SNX15_uc001ock.3_Silent_p.L138L	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	138					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GTCCAGGGACCTACACATCCT	0.622000														32			4		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19628996	19628996	+	Silent	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr21:19628996T>C	uc002ykv.3	+	1	641	c.250T>C	c.(250-252)Ttg>Ctg	p.L84L	CHODL_uc002ykr.3_Silent_p.L43L|CHODL_uc002yks.3_Silent_p.L43L|CHODL_uc021whr.1_Silent_p.L43L|CHODL_uc002ykt.3_Silent_p.L43L|CHODL_uc002yku.3_Silent_p.L43L|CHODL_uc021whs.1_Silent_p.L65L	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	84	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGAGAGCATGTTGCAAAACCT	0.517000														75			20		0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858067	1858067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:1858067C>T	uc001lue.1	+	6	936	c.808C>T	c.(808-810)Cga>Tga	p.R270*	SYT8_uc001lud.2_Nonsense_Mutation_p.R270*|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	270	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGGAGGCTCGAGGCCTGCG	0.687000														40			10		0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44332975	44332975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:44332975G>A	uc003bei.1	+	5	975	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	268					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				ATCCTCAGAAGGGATGGATCC	0.597000														48			25		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041230	65041230	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:65041230G>A	uc002anq.3	-	4	639	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	129							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GTGCTCCTAGGGCGGGGTGCA	0.562000														72			18		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517991	68517991	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:68517991G>A	uc001ooc.3	-	1	278	c.138C>T	c.(136-138)ttC>ttT	p.F46F	MTL5_uc001ood.1_Silent_p.F46F|MTL5_uc009ysi.1_Silent_p.F46F|MTL5_uc001ooe.3_Silent_p.F46F	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	46					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGAAGACGTGGAACTCGTCCT	0.652000														40			4		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29924113	29924113	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:29924113C>G	uc003afr.3	-	11	1355	c.1020G>C	c.(1018-1020)atG>atC	p.M340I	THOC5_uc003afq.3_Missense_Mutation_p.M1I|THOC5_uc003afs.3_Missense_Mutation_p.M340I|THOC5_uc003aft.3_Missense_Mutation_p.M340I|THOC5_uc003afu.3_Missense_Mutation_p.M340I	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	340					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCTTCAGCATCTCCTTGC	0.522000														114			6		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159646637	159646637	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:159646637C>T	uc010kjv.3	+	7	1155	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	FNDC1_uc010kjw.1_Missense_Mutation_p.R267C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	319	Fibronectin type-III 3.					extracellular region		p.R319C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCTAACAGGCGTGTGCTGAT	0.468000														129			34		0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225155184	225155184	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:225155184C>A	uc001how.2	+	5	765	c.550C>A	c.(550-552)Cct>Act	p.P184T	DNAH14_uc001hou.4_Missense_Mutation_p.P184T|DNAH14_uc001hot.4_Missense_Mutation_p.P184T|DNAH14_uc001hov.4_Missense_Mutation_p.P184T	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	311					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCGGAAAAGTCCTAAATCCCT	0.299000														53			34		3.21399e-22	3.32633e-22	1	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621039	144621039	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:144621039G>A	uc003yyd.2	-	1	527	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	166					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTCCCCGAGGGGGCTCACCTT	0.632000														32			7		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885110	60885110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:60885110C>T	uc002ycq.3	-	77	10829	c.10762G>A	c.(10762-10764)Ggg>Agg	p.G3588R	LAMA5_uc021wfw.1_Missense_Mutation_p.G3583R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3588	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGAACTCCCCTGCTCCGTCA	0.682000														51			7		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125307	103125307	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:103125307G>A	uc002tbz.4	+	6	1859	c.1402_splice	c.e6-1	p.G468_splice		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	468					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCTAGGGAATCACAGTT	0.333000														44			9		0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921346	12921346	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:12921346C>T	uc001aum.1	+	3	1224	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	379										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCCCAGCTCACCACCTTCT	0.562000														222			13		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034357	79034357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:79034357G>A	uc003kgc.3	+	1	9841	c.9769G>A	c.(9769-9771)Gac>Aac	p.D3257N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3257						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACTCAAAAGGACCAGGGCCA	0.413000														41			3		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67942593	67942593	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:67942593C>T	uc001onm.1	-	4	691	c.435G>A	c.(433-435)aaG>aaA	p.K145K	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Silent_p.K145K|SUV420H1_uc010rqa.1_Silent_p.K122K	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTTCATCTTTCTTAAAACGTT	0.368000														90			11		0	0	1	0	0
TSNARE1	203062	broad.mit.edu	37	8	143425466	143425466	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:143425466G>A	uc003ywj.3	-	2	645	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TSNARE1_uc011lju.2_Silent_p.L202L|TSNARE1_uc003ywk.3_Silent_p.L202L|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	202					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTTCCGGAGGTCGCCCA	0.692000														41			16		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84088076	84088076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:84088076G>A	uc002fhi.3	-	22	3639	c.3137C>T	c.(3136-3138)cCg>cTg	p.P1046L	MBTPS1_uc002fhh.3_Missense_Mutation_p.P550L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	1046	Arg/Lys/Pro-rich (basic).				cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTCTTTGGCGGGTGAACCTG	0.647000														24			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196786915	196786915	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:196786915G>A	uc002utj.4	-	23	3933	c.3832C>T	c.(3832-3834)Cat>Tat	p.H1278Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1278	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						GTTTCTAAATGATTTTCCTAG	0.289000														22			7		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3600430	3600430	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:3600430C>T	uc010btn.3	-	11	2827	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	NLRC3_uc010bto.1_Missense_Mutation_p.G72S	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	807					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTCCAGGCCCTGGTTCACC	0.572000														55			6		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89237543	89237543	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:89237543C>T	uc001dmn.3	+	5	1308	c.966C>T	c.(964-966)tcC>tcT	p.S322S	PKN2_uc010osp.2_Silent_p.S322S|PKN2_uc010osq.2_Silent_p.S165S|PKN2_uc009wcv.3_Silent_p.S322S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	322					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTACACTATCCAAACCAGCAG	0.343000														41			9		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100211379	100211379	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:100211379C>T	uc001pga.3	+	21	3419	c.2915C>T	c.(2914-2916)tCc>tTc	p.S972F	CNTN5_uc021qpb.1_Missense_Mutation_p.S972F|CNTN5_uc021qpc.1_Missense_Mutation_p.S898F|CNTN5_uc010ruk.2_Missense_Mutation_p.S243F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	972					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCAAGAAATCCCGTAAGTGA	0.443000														15			5		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98409920	98409920	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:98409920C>T	uc002syh.4	-	29	3712	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1161						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CATCGAAGGGCGGGTTCGAGG	0.468000														41			3		0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155143429	155143429	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:155143429C>T	uc003qqa.3	+	16	2044	c.1812C>T	c.(1810-1812)agC>agT	p.S604S	SCAF8_uc011efj.2_Silent_p.S670S|SCAF8_uc011efk.2_Silent_p.S649S|SCAF8_uc003qpz.3_Silent_p.S604S|SCAF8_uc010kji.3_Silent_p.S625S	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	604					RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGTGAAAAGCTCAGAACCTG	0.413000														49			14		0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10861804	10861804	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:10861804A>T	uc002daa.1	+	10	844	c.821_splice	c.e10-2	p.G274_splice	FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|FAM18A_uc010buo.1_3'UTR|FAM18A_uc002daf.1_Non-coding_Transcript|NUBP1_uc002dab.1_Splice_Site_p.G263_splice|FAM18A_uc002dae.1_3'UTR	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	274					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TTCTTTTTTAAGGTAAGAATT	0.428000														86			26		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150908151	150908151	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:150908151C>T	uc004fey.1	+	3	545	c.321C>T	c.(319-321)acC>acT	p.T107T		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	107					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGACTGTGACCACACAGGAGG	0.532000														66			16		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422757	156422757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:156422757G>A	uc003fav.3	+	5	2233	c.1811G>A	c.(1810-1812)aGa>aAa	p.R604K	TIPARP_uc003faw.3_Missense_Mutation_p.R604K|TIPARP_uc021xgg.1_Missense_Mutation_p.R604K	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	604	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGGCATGAGAAGGCCCCCG	0.448000														75			13		0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82371553	82371553	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:82371553C>T	uc011lfo.2	-	1	93	c.93G>A	c.(91-93)cgG>cgA	p.R31R		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	31							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			CTGCCATGTTCCGGGCTGCGA	0.403000														90			19		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615425	73615425	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:73615425C>T	uc002avp.3	-	7	4003	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1003	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CAAGGGACGGCGGCTCAGGCT	0.711000														13			5		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152467039	152467039	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:152467039G>A	uc021vrb.1	-	74	11309	c.11280C>T	c.(11278-11280)atC>atT	p.I3760I	NEB_uc002txu.3_Silent_p.I4003I|NEB_uc021vrc.1_Silent_p.I4003I|NEB_uc010fnx.3_Silent_p.I3748I|NEB_uc021vrd.1_Silent_p.I3760I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3760					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTCACTGGCGATGTCCCTGG	0.483000														89			16		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3019199	3019199	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:3019199G>A	uc022brz.1	+	7	1175	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	ARSF_uc004cre.2_Missense_Mutation_p.G347R|ARSF_uc004crf.2_Missense_Mutation_p.G347R	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	347						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCAGATCACGGAGGGCATTT	0.433000														60			13		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353697	45353697	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:45353697C>T	uc002xsl.3	+	1	119	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	8						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CCCACCTGTCCTGCCTTTGTG	0.507000														84			27		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771747	157771748	+	Silent	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:157771747_157771748GG>AA	uc001frg.3	-	4	956_957	c.843_844CC>TT	c.(841-846)ggcctg>ggTTtg	p.281_282GL>GL	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.281_282GL>GL|FCRL1_uc001fri.3_Silent_p.281_282GL>GL|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	281	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.G281S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGCCCCCAGGCCATTGTTGG	0.584000														68			23		0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	86988964	86988964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:86988964G>A	uc003hps.3	-	9	1633	c.947C>T	c.(946-948)tCc>tTc	p.S316F	MAPK10_uc010ikg.3_Missense_Mutation_p.S278F|MAPK10_uc003hpr.3_Missense_Mutation_p.S278F|MAPK10_uc003hpt.3_Missense_Mutation_p.S316F|MAPK10_uc003hpu.3_Missense_Mutation_p.S316F|MAPK10_uc003hpv.3_Missense_Mutation_p.S171F|MAPK10_uc003hpn.3_Missense_Mutation_p.S64F|MAPK10_uc011ccw.2_Missense_Mutation_p.S202F|MAPK10_uc003hpo.3_Missense_Mutation_p.S171F|MAPK10_uc003hpp.3_Missense_Mutation_p.S171F	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	316	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGGGAAGAGGGAATCTGGGAA	0.493000														30			5		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102645979	102645979	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:102645979G>A	uc001phg.2	-	6	1043	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	336	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AAATATGATGGAAGAGAGGGC	0.348000														23			7		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590603	140590603	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140590603C>T	uc003liz.3	+	0	2313	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	PCDHB12_uc011dak.2_Silent_p.F371F|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	708					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.692000														236			64		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035855	110035855	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:110035855A>G	uc010rwc.2	+	5	2048	c.2048A>G	c.(2047-2049)gAc>gGc	p.D683G	ZC3H12C_uc009yxw.3_Missense_Mutation_p.D682G|ZC3H12C_uc010rwd.2_Missense_Mutation_p.D683G|ZC3H12C_uc001pkr.4_Missense_Mutation_p.D651G	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	682							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AATTTCCACGACCCCTTAACC	0.552000														190			61		0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144697044	144697044	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:144697044G>A	uc003yza.2	-	3	339	c.303C>T	c.(301-303)gcC>gcT	p.A101A	TSTA3_uc003yzb.2_Silent_p.A101A|TSTA3_uc011lko.1_Silent_p.A101A	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	101					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCTCAAAGGCCGAGTGCA	0.612000														66			9		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747144	19747144	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:19747144C>T	uc003jgd.3	-	3	964	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CDH18_uc011cnm.2_Missense_Mutation_p.E144K|CDH18_uc003jgc.3_Missense_Mutation_p.E144K|CDH18_uc021xwu.1_Missense_Mutation_p.E144K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	144	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S143F(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGATGAACTCGGATTCAGGC	0.423000														88			9		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27888832	27888832	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:27888832C>T	uc003xgm.4	-	14	1979	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	612						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		CTGTCATTTTCTCCTGCAGGG	0.428000														91			17		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100264083	100264083	+	RNA	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:100264083C>T	uc021xqi.1	-	5		c.782G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AACTCTTTAGCCTTTGCAAAT	0.478000														386			45		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76386794	76386794	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:76386794C>T	uc003pid.4	+	13	2289	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	SENP6_uc003pie.4_Missense_Mutation_p.P550L|SENP6_uc010kbf.3_Non-coding_Transcript|SENP6_uc003pic.2_Missense_Mutation_p.P550L|SENP6_uc003pif.1_Missense_Mutation_p.P448L	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	557					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GGCCTTGATCCTCCGGCAAAT	0.264000														25			7		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968558	200968558	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:200968558C>T	uc001gvs.2	-	12	2121	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KIF21B_uc009wzl.2_Missense_Mutation_p.E602K|KIF21B_uc001gvr.2_Missense_Mutation_p.E602K|KIF21B_uc010ppn.2_Missense_Mutation_p.E602K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	602					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGCCCTTCCTCCTCCTCACAG	0.642000														59			25		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579480	55579480	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55579480G>A	uc001nhw.1	+	0	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTTTTTCTGTGATCTACCTCC	0.428000														184			34		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97976469	97976469	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:97976469C>T	uc001kls.4	-	6	725	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BLNK_uc001kme.4_Missense_Mutation_p.E101K|BLNK_uc001klt.4_Missense_Mutation_p.E97K|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.E101K|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E183K|BLNK_uc001kly.4_Missense_Mutation_p.E183K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E183K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.E101K|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	183	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCATTATCTTCCACGGGGACC	0.378000														31			12		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16162102	16162102	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:16162102C>T	uc010bvi.3	+	12	1942	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ABCC1_uc010bvj.3_Silent_p.F589F|ABCC1_uc010bvk.3_Silent_p.F589F|ABCC1_uc010bvl.3_Silent_p.F589F|ABCC1_uc010bvm.3_Silent_p.F589F|ABCC1_uc002del.4_Silent_p.F473F|ABCC1_uc021tdq.1_Intron|ABCC1_uc021tdr.1_Intron	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	589	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGCCTTGTTCAACATCCTCC	0.572000														154			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865166	140865166	+	Silent	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140865166T>C	uc003lky.2	+	0	426	c.426T>C	c.(424-426)atT>atC	p.I142I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Silent_p.I142I	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	142	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGAAATTGGGGAGGCAG	0.542000														109			14		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233152679	233152679	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:233152679C>T	uc001hvl.2	-	26	5062	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PCNXL2_uc001hvk.1_Silent_p.R261R|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1609						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTGTCTTTTCCGTGCACAGT	0.418000														32			26		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72560874	72560874	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:72560874C>T	uc009ytl.3	-	13	1590	c.1369G>A	c.(1369-1371)Gat>Aat	p.D457N	FCHSD2_uc010rrg.2_Missense_Mutation_p.D321N|FCHSD2_uc001oth.4_Missense_Mutation_p.D401N|FCHSD2_uc001oti.2_Missense_Mutation_p.D416N	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	457							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGCTGTCATCGAAAACATCC	0.378000														220			9		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44178146	44178146	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:44178146C>T	uc003bdy.2	-	2	367	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_5'UTR|EFCAB6_uc011aqa.2_5'UTR|EFCAB6_uc003bea.2_Missense_Mutation_p.R15Q|EFCAB6_uc003beb.4_5'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAAATTTTCGTGTGTGAGG	0.378000														64			39		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539408	95539408	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:95539408T>C	uc003ygo.2	-	7	1135	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	KIAA1429_uc003ygp.3_Missense_Mutation_p.Y355C|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	355					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTAGTCTTGTATGGACAACT	0.393000														89			17		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052388	90052388	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:90052388G>A	uc003kju.3	+	55	11794	c.11698G>A	c.(11698-11700)Gag>Aag	p.E3900K	GPR98_uc003kjt.3_Missense_Mutation_p.E1606K|GPR98_uc003kjv.3_Missense_Mutation_p.E1500K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3900					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAATAGCTGAGATAATGAT	0.423000														63			11		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915370	156915370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:156915370G>A	uc003lwz.3	-	20	2532	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	ADAM19_uc003lww.2_Missense_Mutation_p.S551F|ADAM19_uc003lwy.3_Missense_Mutation_p.S417F|ADAM19_uc011ddr.1_Missense_Mutation_p.S749F	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	818					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGCCCTGGGGAGTTCCTAGC	0.642000														135			19		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73471044	73471044	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:73471044G>A	uc003tzw.3	+	21	1448	c.1357_splice	c.e21+1	p.G453_splice	ELN_uc003tzn.3_Splice_Site_p.G453_splice|ELN_uc003tzy.3_Splice_Site_p.G448_splice|ELN_uc003tzz.3_Splice_Site_p.G391_splice|ELN_uc003tzo.3_Splice_Site_p.G439_splice|ELN_uc003tzp.3_Splice_Site_p.G383_splice|ELN_uc003tzq.3_Splice_Site_p.G336_splice|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Splice_Site_p.G453_splice|ELN_uc003tzt.3_Splice_Site_p.G458_splice|ELN_uc003tzu.3_Splice_Site_p.G458_splice|ELN_uc003tzv.3_Splice_Site_p.G443_splice|ELN_uc011kfe.2_Splice_Site|ELN_uc003tzx.3_Splice_Site_p.G443_splice|ELN_uc011kff.2_Splice_Site_p.G453_splice	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	482	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GCCAAGTACGGTAAGTGCCCC	0.627000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							56			11		0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38508701	38508701	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:38508701C>T	uc021txb.1	+	4	1111	c.749C>T	c.(748-750)aCc>aTc	p.T250I	RARA_uc002huk.2_Missense_Mutation_p.T250I|RARA_uc002hul.4_Missense_Mutation_p.T250I|RARA_uc010wfe.2_Missense_Mutation_p.T153I|RARA_uc002hun.2_Missense_Mutation_p.T245I	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	250	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGGCTTCACCACCCTCACC	0.602000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									63			8		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126328293	126328293	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:126328293C>T	uc003ifj.4	+	2	5566	c.5566C>T	c.(5566-5568)Cct>Tct	p.P1856S	FAT4_uc011cgp.2_Missense_Mutation_p.P154S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1856	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACACAATCCCTGGTAGGTG	0.383000														106			13		0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43620829	43620829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:43620829G>A	uc001zrg.3	-	0	1992	c.1859C>T	c.(1858-1860)aCt>aTt	p.T620I	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	620					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CAATCCTGTAGTCAAATTGAT	0.438000														53			11		0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43023637	43023637	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:43023637G>A	uc003bcz.3	-	5	605	c.521C>T	c.(520-522)tCt>tTt	p.S174F	CYB5R3_uc011aps.2_Missense_Mutation_p.S207F|CYB5R3_uc021wqn.1_Missense_Mutation_p.S151F|CYB5R3_uc003bcy.3_Missense_Mutation_p.S151F|CYB5R3_uc003bcx.3_Missense_Mutation_p.S151F	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	174					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	CATGCCCACAGACTTCACTGT	0.612000														99			7		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514565	51514565	+	Silent	SNP	G	A	A	rs140346969		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:51514565G>A	uc001zyz.4	-	5	860	c.609C>T	c.(607-609)ttC>ttT	p.F203F	CYP19A1_uc001zza.4_Silent_p.F203F|CYP19A1_uc001zzb.2_Silent_p.F203F|CYP19A1_uc001zzd.3_Silent_p.F203F|CYP19A1_uc010bey.1_Silent_p.F203F	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	203					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGATCCTCAAGAAGAGCGTGT	0.493000														46			12		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94546147	94546148	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:94546147_94546148CC>TT	uc001dqh.3	-	7	1089_1090	c.985_986GG>AA	c.(985-987)gga>AAa	p.G329K	ABCA4_uc010otn.1_Missense_Mutation_p.G329K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	329					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGAGCCACCTCCCTCGGGGTAG	0.520000														101			25		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10264999	10264999	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:10264999G>A	uc002mng.3	-	20	2121	c.1941C>T	c.(1939-1941)gcC>gcT	p.A647A	DNMT1_uc010xlc.2_Silent_p.A663A|DNMT1_uc002mnh.3_Silent_p.A542A|DNMT1_uc010xld.2_Silent_p.A647A	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	647					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGCGCTTAAAGGCGTTCTCCT	0.562000														136			30		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33350846	33350846	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:33350846G>A	uc002ntv.4	-	7	891	c.774C>T	c.(772-774)atC>atT	p.I258I	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Silent_p.I258I|SLC7A9_uc021usa.1_Silent_p.I258I|SLC7A9_uc002ntw.4_Silent_p.I49I|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	258					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGGGATCCCGATGATAATGG	0.617000														47			9		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307858	39307858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:39307858C>T	uc021wwc.1	-	1	279	c.239G>A	c.(238-240)gGa>gAa	p.G80E	CX3CR1_uc021wwa.1_Missense_Mutation_p.G48E|CX3CR1_uc021wwb.1_Missense_Mutation_p.G48E|CX3CR1_uc003cjl.3_Missense_Mutation_p.G48E|CX3CR1_uc021wwd.1_Missense_Mutation_p.G48E	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	48					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAACAAATTTCCCACCAGGCC	0.488000														66			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864613	13864613	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:13864613C>T	uc003jfd.2	-	27	4531	c.4489G>A	c.(4489-4491)Gaa>Aaa	p.E1497K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1497	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1497K(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTATCCTTTCCCAGTGCCGC	0.473000									Kartagener syndrome					56			10		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848982	73848982	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:73848982G>A	uc003xzb.3	+	2	1980	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	464					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTATGGAACTGATAGATGTGG	0.522000														135			23		0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86240861	86240861	+	Silent	SNP	G	A	A	rs146043953		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:86240861G>A	uc022axc.1	-	6	793	c.714C>T	c.(712-714)aaC>aaT	p.N238N	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.N238N|CA1_uc022axd.1_Silent_p.N238N|CA1_uc010mae.2_Silent_p.N238N|CA1_uc003ydi.3_Silent_p.N238N	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	238					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGGACAGCGTTATCACCTT	0.398000														105			4		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56605222	56605222	+	Silent	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:56605222T>C	uc003dhz.3	+	6	915	c.828T>C	c.(826-828)gcT>gcC	p.A276A	CCDC66_uc003dhy.3_5'UTR|CCDC66_uc003dhu.3_Silent_p.A242A|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	276										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AACAGGTTGCTTTAAAGAAGA	0.284000														44			7		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692234	12692234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:12692234C>T	uc002mtz.2	-	4	784	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGGGTTTCTCTCCAGTGTGA	0.418000														73			16		0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41476673	41476673	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:41476673A>T	uc010ucv.2	-	11	1447	c.1175T>A	c.(1174-1176)gTg>gAg	p.V392E	EXD1_uc001znj.3_Missense_Mutation_p.V132E|EXD1_uc001znk.3_Missense_Mutation_p.V334E	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	334					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGGCTGTAGCACTGTCCTTAT	0.443000														88			24		0	0	1	0	0
HYLS1	219844	broad.mit.edu	37	11	125769315	125769315	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:125769315G>A	uc009zbv.3	+	3	586	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	HYLS1_uc001qcx.4_Missense_Mutation_p.E18K|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Missense_Mutation_p.E18K	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA.	18						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GGATCCAGAAGAACGAATGTT	0.463000														37			15		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209138364	209138364	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:209138364C>T	uc002vcz.3	+	2	387	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P77S|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P77S|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P77S|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P77S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	77					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGACCAGCCCTCAGCTCCC	0.502000														53			14		0	0	1	0	0
PRAMEF18	391003	broad.mit.edu	37	1	13695885	13695885	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:13695885C>T	uc009vny.1	-	2	1127	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G		NM_001099850	NP_001093260	Q5VWM3	PRA18_HUMAN	Homo sapiens PRAME family member 18 (PRAMEF18), mRNA.	360										lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGTACCCAATCCCACAGTCCA	0.552000														314			68		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33650359	33650359	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33650359C>T	uc021ywr.1	+	33	4759	c.4535C>T	c.(4534-4536)cCg>cTg	p.P1512L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1512					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCGAGTGTCCGTGGCTACAG	0.657000														77			27		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823308	14823308	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:14823308C>T	uc003zlm.3	-	13	3003	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	729					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453000														119			35		0	0	1	0	0
FAM18B2	201158	broad.mit.edu	37	17	15457129	15457129	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:15457129G>A	uc002goq.2	-	2	293	c.110C>T	c.(109-111)tCg>tTg	p.S37L	CDRT4_uc021tqm.1_Intron|FAM18B2_uc010vvx.2_Missense_Mutation_p.S37L|FAM18B2_uc010vvw.2_Intron|FAM18B2_uc010cor.2_Missense_Mutation_p.S37L	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	Homo sapiens family with sequence similarity 18, member B2 (FAM18B2), transcript variant 1, mRNA.	37						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		GTGGAAAAACGATGCTACTGG	0.368000														155			33		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915855	126915855	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:126915855C>T	uc003eji.1	+	1	567	c.327C>T	c.(325-327)tcC>tcT	p.S109S						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GGGGCGCCTCCAGCTTTGACC	0.577000														200			41		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133653565	133653565	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:133653565G>A	uc003eqa.4	-	13	2198	c.1924C>T	c.(1924-1926)Ctc>Ttc	p.L642F		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	642					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGTCAGATGAGGCCTGCCGCC	0.552000														49			15		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123339130	123339130	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:123339130G>A	uc003ego.3	-	31	5574	c.5292C>T	c.(5290-5292)atC>atT	p.I1764I	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.I4I|MYLK_uc003egm.3_Silent_p.I4I|MYLK_uc010hrr.3_Silent_p.I199I|MYLK_uc011bjv.2_Silent_p.I564I|MYLK_uc011bjw.2_Silent_p.I1764I|MYLK_uc003egp.3_Silent_p.I1695I|MYLK_uc003egq.3_Silent_p.I1713I|MYLK_uc003egr.3_Silent_p.I1644I|MYLK_uc003egs.3_Silent_p.I1588I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1764	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAGCCCTGAGATCATTGCCA	0.517000														213			44		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583574	7583574	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:7583574G>A	uc003mxp.1	+	23	6358	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	DSP_uc003mxq.1_Missense_Mutation_p.E1428K|DSP_uc021yle.1_Missense_Mutation_p.E1584K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2027	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCTCCTAAGGAAAAATACTC	0.468000														68			33		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29945079	29945079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:29945079G>A	uc003afr.3	-	2	393	c.58C>T	c.(58-60)Cca>Tca	p.P20S	THOC5_uc003afs.3_Missense_Mutation_p.P20S|THOC5_uc003aft.3_Missense_Mutation_p.P20S|THOC5_uc003afu.3_Missense_Mutation_p.P20S|THOC5_uc003afv.1_Missense_Mutation_p.P20S	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	20	Interaction with CSF1R (By similarity).|Interaction with THOC7.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTCAGCTGGGGCTCCATCG	0.493000														56			30		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271019	22271019	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:22271019A>G	uc010ecx.3	+	3	636	c.467A>G	c.(466-468)aAg>aGg	p.K156R	ZNF257_uc010ecy.3_Missense_Mutation_p.K124R	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTCTTCTATAAGTTTTCAAAT	0.313000														26			7		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17923792	17923792	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:17923792G>A	uc002wqc.3	-	11	1212	c.1126C>T	c.(1126-1128)Cta>Tta	p.L376L	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.L376L|SNX5_uc002wqe.3_Silent_p.L271L	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	376	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						ATTTCAATTAGATTCTTTCTA	0.323000														113			37		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176928	22176928	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:22176928G>A	uc009vqd.3	-	55	7265	c.7225C>T	c.(7225-7227)Cga>Tga	p.R2409*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.R2408*	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2408	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAACACTCGGCACACGTAC	0.657000														12			4		0	0	1	0	0
POLD3	10714	broad.mit.edu	37	11	74303749	74303749	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:74303749G>A	uc001ovf.1	+	0	121	c.46G>A	c.(46-48)Gac>Aac	p.D16N	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	16					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GTTCGTCACGGACCAAAACAA	0.622000														78			14		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36168602	36168602	+	Missense_Mutation	SNP	C	T	T	rs139238452	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:36168602C>T	uc003gsq.2	-	9	2263	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ARAP2_uc003gsr.1_Missense_Mutation_p.R642Q	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	642	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTCACAGTTCGGTCCACTTG	0.333000														46			5		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:57175068G>A	uc010ygn.2	-	1	1726	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642000														236			55		0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220899	155220899	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:155220899G>A	uc001fjm.3	-	7	1557	c.951C>T	c.(949-951)gcC>gcT	p.A317A	FAM189B_uc009wql.3_Silent_p.A83A|FAM189B_uc001fjn.3_Silent_p.A221A|FAM189B_uc001fjo.3_Silent_p.A299A|FAM189B_uc001fjp.3_Intron	NM_006589	NP_006580	P81408	F189B_HUMAN	Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA.	317						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTACAATGGAGGCCACTCGTT	0.572000											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			8		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120195222	120195223	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:120195222_120195223GG>AA	uc001txj.2	-	21	2714_2715	c.2658_2659CC>TT	c.(2656-2661)gaccac>gaTTac	p.H887Y	CIT_uc001txh.2_Missense_Mutation_p.H379Y|CIT_uc001txi.2_Missense_Mutation_p.H845Y	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	845					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTCACTGTGGTCTTGGTGGC	0.550000														277			61		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21343446	21343446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:21343446C>T	uc002kuq.3	+	7	1227	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LAMA3_uc010dlv.2_Nonsense_Mutation_p.Q381*|LAMA3_uc002kur.3_Nonsense_Mutation_p.Q381*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	381	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGAATACCCAGGGCATCTA	0.463000														84			5		0	0	1	0	0
CPNE1	8904	broad.mit.edu	37	20	34219456	34219456	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:34219456G>A	uc010zvj.2	-	7	1054	c.687C>T	c.(685-687)atC>atT	p.I229I	CPNE1_uc002xde.3_Silent_p.I200I|CPNE1_uc002xdf.3_Silent_p.I224I|CPNE1_uc002xdi.3_Silent_p.I224I|CPNE1_uc002xdj.3_Silent_p.I224I|CPNE1_uc002xdl.3_Silent_p.I224I|CPNE1_uc002xdm.3_Silent_p.I224I|CPNE1_uc010gfk.2_Silent_p.I224I	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	224					lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGAAGGTACCGATGAGATCAT	0.547000														35			13		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81297574	81297574	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:81297574G>A	uc001xux.2	-	11	1293	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	CEP128_uc010asz.2_Non-coding_Transcript|CEP128_uc001xuz.2_Silent_p.F374F|CEP128_uc001xuy.1_Silent_p.F232F	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	374						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCATTGCGCTGAAGTTCAGCT	0.448000														82			21		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408648	33408648	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33408648C>T	uc011dri.2	+	10	2014	c.1819C>T	c.(1819-1821)Ctc>Ttc	p.L607F	SYNGAP1_uc010juy.3_Missense_Mutation_p.L592F|SYNGAP1_uc010juz.3_Missense_Mutation_p.L319F	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	607	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTCGCCCAGTCTCTTTGGGCT	0.587000														44			4		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125432363	125432363	+	Silent	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:125432363G>C	uc001ugy.3	-	26	3558	c.3459C>G	c.(3457-3459)ccC>ccG	p.P1153P	DHX37_uc001ugz.1_3'UTR	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	1153				YLLAEYCEWLPQAMHPDIEKAWPPTTVH -> CEFDQGQGV GVDRMGSLRQGLCALCTVSPGLAEGSGPTAAGQLFAT (in Ref. 2).			ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGACAGTGGTGGGGGGCCAGG	0.637000														24			4		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552431	140552431	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140552431G>A	uc003lit.3	+	0	189	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	5					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCAGAGTGGAGCGTGCTG	0.488000														71			6		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362906	49362907	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:49362906_49362907CC>TT	uc002pkx.3	-	6	1062_1063	c.511_512GG>AA	c.(511-513)ggg>AAg	p.G171K	PLEKHA4_uc010eml.3_Missense_Mutation_p.G171K	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	171	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGCCCTCCCCGGGCTGGGGT	0.614000														36			13		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931199	73931199	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:73931199G>A	uc003kdc.4	-	1	2243	c.1112C>T	c.(1111-1113)gCt>gTt	p.A371V	ENC1_uc011css.2_Missense_Mutation_p.A298V|ENC1_uc021yao.1_Missense_Mutation_p.A371V	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	371					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CATGGGGGCAGCCTTGGACCA	0.587000														83			14		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154194718	154194718	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:154194718G>A	uc004fmt.3	-	7	1425	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	418	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CGGGGGCGAGGACTAAGGGAG	0.438000														31			7		0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436085	27436085	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:27436085A>G	uc011aww.2	-	19	3262	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	SLC4A7_uc011awx.2_Missense_Mutation_p.I1001T|SLC4A7_uc021wun.1_Missense_Mutation_p.I890T|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.I997T|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.I886T|SLC4A7_uc011axb.2_Missense_Mutation_p.I1001T|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.I886T|SLC4A7_uc010hfl.3_Missense_Mutation_p.I555T|SLC4A7_uc003cdv.3_Missense_Mutation_p.I1005T|SLC4A7_uc003cdw.3_Missense_Mutation_p.I881T	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1005						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTGTTCACGAATTCCCAAAAA	0.408000														77			17		0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580102	140580102	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:140580102G>T	uc003liy.3	+	0	755	c.755G>T	c.(754-756)cGg>cTg	p.R252L		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGAAGATTCGGGAGAATAGC	0.468000														172			37		1.90571e-15	1.96469e-15	1	1	0
GALK1	2584	broad.mit.edu	37	17	73754178	73754179	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:73754178_73754179GG>AA	uc002jpk.3	-	7	1200_1201	c.1137_1138CC>TT	c.(1135-1140)tacctc>taTTtc	p.L380F		NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	380					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTGAGAGAGGTAGAAGGTGG	0.698000														20			3		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44064457	44064457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:44064457G>A	uc001cjr.3	+	12	2526	c.2186G>A	c.(2185-2187)tGg>tAg	p.W729*	PTPRF_uc001cjs.3_Nonsense_Mutation_p.W729*|PTPRF_uc001cju.3_Nonsense_Mutation_p.W300*|PTPRF_uc009vwt.3_Nonsense_Mutation_p.W300*|PTPRF_uc001cjv.3_Nonsense_Mutation_p.W198*|PTPRF_uc001cjw.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	729	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGTCTACTGGAAGCTGCCT	0.642000														89			26		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54652444	54652444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:54652444C>T	uc002qdj.2	+	11	1696	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S	CNOT3_uc010yel.2_Missense_Mutation_p.P458S|CNOT3_uc002qdi.3_Missense_Mutation_p.P371S|CNOT3_uc002qdk.2_Missense_Mutation_p.P458S|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	458	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTGGGCCCCCCTTCCGGCCC	0.637000														19			3		0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68568762	68568762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:68568762C>T	uc003jvs.4	+	9	939	c.758C>T	c.(757-759)cCt>cTt	p.P253L	CDK7_uc021xzo.1_Missense_Mutation_p.P253L|CDK7_uc003jvt.4_Missense_Mutation_p.P212L	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	253	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell division|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	ATP binding|DNA-dependent ATPase activity|RNA polymerase II carboxy-terminal domain kinase activity|androgen receptor binding|cyclin-dependent protein kinase activity|protein C-terminus binding|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AAGAGTTTCCCTGGAATACCT	0.358000								Nucleotide excision repair (NER)						44			5		0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74759066	74759066	+	Missense_Mutation	SNP	G	A	A	rs147795328	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:74759066G>A	uc001xpr.2	-	10	1194	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	ABCD4_uc001xps.2_Missense_Mutation_p.R189W|ABCD4_uc010tur.2_Missense_Mutation_p.R244W|ABCD4_uc001xpu.2_Missense_Mutation_p.R85W|ABCD4_uc001xpv.2_Non-coding_Transcript	NM_005050	NP_005041	O14678	ABCD4_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 4 (ABCD4), transcript variant 1, mRNA.	348						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGCGTCTCCCGAAGCTGCCCA	0.562000														52			4		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123512605	123512606	+	Missense_Mutation	DNP	GG	AA	AA	rs141974889		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:123512605_123512606GG>AA	uc003ego.3	-	3	365_366	c.83_84CC>TT	c.(82-84)ccc>cTT	p.P28L	MYLK_uc011bjw.2_Missense_Mutation_p.P28L|MYLK_uc003egp.3_Missense_Mutation_p.P28L|MYLK_uc003egq.3_Missense_Mutation_p.P28L|MYLK_uc003egr.3_Missense_Mutation_p.P28L|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Missense_Mutation_p.P28L|MYLK_uc003egu.1_Missense_Mutation_p.P38L	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	28					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P28T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCTGTCAGGGGCATGGAGTC	0.550000														44			8		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47732461	47732461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:47732461C>T	uc002eev.4	+	29	3158	c.3106C>T	c.(3106-3108)Caa>Taa	p.Q1036*	PHKB_uc002eeu.4_Nonsense_Mutation_p.Q1029*|PHKB_uc002eew.4_Nonsense_Mutation_p.Q277*	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	1036					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TAATGAATTTCAAAAAGATCA	0.308000														32			8		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340089	55340089	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55340089G>A	uc010rih.2	+	0	486	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L162M(1)|p.A161A(1)		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)				TTCTTGCCCTGAGTTTGCCAT	0.468000														114			25		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1906969	1906969	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:1906969C>A	uc002qxe.3	-	13	2742	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	MYT1L_uc002qxd.3_Nonsense_Mutation_p.E637*|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	639					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAATATTTCTCGAGCTCCTTG	0.498000														36			6		3.59834e-05	3.64622e-05	1	1	0
SLC18A1	6570	broad.mit.edu	37	8	20036652	20036652	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:20036652G>A	uc011kyq.2	-	3	939	c.468C>T	c.(466-468)ttC>ttT	p.F156F	SLC18A1_uc003wzm.3_Silent_p.F156F|SLC18A1_uc011kyr.2_Silent_p.F156F|SLC18A1_uc003wzn.3_Silent_p.F156F|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	156					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.F156L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GAGGGCCCACGAATGGGTTGA	0.532000														43			6		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791495	60791495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:60791495G>A	uc002yci.3	-	2	1202	c.905C>T	c.(904-906)tCa>tTa	p.S302L	HRH3_uc002ycf.2_Missense_Mutation_p.S302L|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	302					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGAGGTGGGTGAAGCCACGGA	0.731000														2			2		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179400176	179400176	+	Silent	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:179400176G>T	uc021vsy.1	-	306	93687	c.93462C>A	c.(93460-93462)acC>acA	p.T31154T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T24849T|TTN_uc021vta.1_Silent_p.T24782T|TTN_uc021vtb.1_Silent_p.T24657T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32081							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)			CAATGTAGTTGGTGATTTTGC	0.453000														33			10		2.52707e-12	2.59024e-12	1	1	0
DHTKD1	55526	broad.mit.edu	37	10	12131168	12131168	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:12131168A>G	uc001ild.4	+	4	1000	c.901A>G	c.(901-903)Act>Gct	p.T301A		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	301					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTGGGCAAAACTCGCGGCAG	0.607000														85			29		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96783568	96783568	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:96783568C>T	uc001yfi.3	-	19	3489	c.3124G>A	c.(3124-3126)Gac>Aac	p.D1042N		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1042										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTGAGAGTCTAATTTTTTT	0.368000														50			12		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192444	179192444	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:179192444C>T	uc003mkm.3	+	1	696	c.433C>T	c.(433-435)Cct>Tct	p.P145S	MAML1_uc003mkn.1_Missense_Mutation_p.P145S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	145					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGGGAGGCCCCTCTGGGAGT	0.592000														66			8		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065992	242065992	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:242065992C>T	uc002wao.2	-	9	2471	c.2338G>A	c.(2338-2340)Gat>Aat	p.D780N	PASK_uc010zol.2_Missense_Mutation_p.D594N|PASK_uc010zom.2_Missense_Mutation_p.D745N|PASK_uc010fzl.2_Missense_Mutation_p.D780N|PASK_uc010zon.2_Missense_Mutation_p.D561N|PASK_uc021vzf.1_Missense_Mutation_p.D780N|PASK_uc002wap.3_Missense_Mutation_p.D323N|PASK_uc002waq.3_Missense_Mutation_p.D780N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	780					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTACATCTGGATCGGAG	0.542000														49			16		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38805075	38805075	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:38805075C>T	uc001zke.4	-	6	936	c.758G>A	c.(757-759)gGc>gAc	p.G253D	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.G115D|RASGRP1_uc010bbg.3_Missense_Mutation_p.G115D|RASGRP1_uc001zkd.4_Missense_Mutation_p.G253D	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	253	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CTGGGAGATGCCGTTGCACAG	0.493000														36			3		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730243	141730243	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:141730243G>A	uc003vwy.3	+	10	1357	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	435	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGGCTTCCCTGAATTTGTCAA	0.383000														18			6		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218742	49218742	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:49218742C>T	uc010zyt.2	-	12	1777	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R505K|FAM65C_uc002xvn.1_Missense_Mutation_p.R505K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	505										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGTCCTCTCTGTCCCCGGT	0.697000														59			6		0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4764967	4764967	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:4764967C>T	uc002wld.3	-	10	987	c.933G>A	c.(931-933)atG>atA	p.M311I	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Missense_Mutation_p.M311I	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	311	SARAH.				cell cycle|signal transduction	nucleus	protein binding	p.L310I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCTGTCGAATCATTAGCCGGA	0.592000														45			13		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43896072	43896072	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:43896072C>T	uc010skx.2	-	3	750	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	250						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACGTTTTTTCCTGGAATGTC	0.328000														27			6		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397137	85397137	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:85397137G>A	uc001dkm.3	-	11	1691	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	484						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAATACAGACGACTGAACAGC	0.383000														63			17		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370194	86370194	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:86370194C>T	uc001vll.1	-	1	909	c.450G>A	c.(448-450)gtG>gtA	p.V150V	SLITRK6_uc021rla.1_Silent_p.V150V	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	150						integral to membrane		p.V150L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGTTCAATCACTGTGATAA	0.353000														77			19		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135113536	135113536	+	Missense_Mutation	SNP	G	C	C	rs138791036		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135113536G>C	uc010qvc.1	-	2	589	c.232C>G	c.(232-234)Ctt>Gtt	p.L78V	TUBGCP2_uc001lmg.1_Missense_Mutation_p.L78V|TUBGCP2_uc010qvd.1_5'UTR|TUBGCP2_uc009ybk.1_Missense_Mutation_p.L78V|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	78					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGCGGGTCAAGGTTCCTTGTA	0.458000														63			24		0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4644970	4644970	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4644970G>A	uc002fyu.2	+	1	716	c.686G>A	c.(685-687)gGa>gAa	p.G229E	CXCL16_uc002fyr.4_5'Flank|CXCL16_uc002fys.4_5'Flank|ZMYND15_uc002fyv.2_Missense_Mutation_p.G229E|ZMYND15_uc002fyt.2_Missense_Mutation_p.G229E	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	229							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGAGCCCAGGGAACCGCAAGC	0.612000														128			23		0	0	1	0	0
TMEM43	79188	broad.mit.edu	37	3	14166704	14166704	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:14166704A>T	uc003byk.2	+	1	266	c.12_splice	c.e1+1	p.N4_splice	CHCHD4_uc003byi.4_5'Flank|CHCHD4_uc003byj.4_5'Flank	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	4						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ATGGCCGCGAATGTGAGTATC	0.697000														23			8		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348141	10348141	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:10348141C>T	uc002gmn.3	-	37	5653	c.5542G>A	c.(5542-5544)Gag>Aag	p.E1848K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1848					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						ACTCTTCTCTCATGTTTGCGA	0.423000														118			25		0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68061944	68061944	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:68061944C>T	uc002aqu.3	+	19	1792	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L	MAP2K5_uc002aqv.3_Missense_Mutation_p.S370L|MAP2K5_uc010ujw.2_Missense_Mutation_p.S344L|MAP2K5_uc002aqx.3_Missense_Mutation_p.S190L	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	380	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCACAGGATTCGCCCGTCCTT	0.443000														39			9		0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26459837	26459837	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:26459837T>A	uc002rgy.3	-	3	330	c.200A>T	c.(199-201)gAg>gTg	p.E67V	HADHA_uc010yks.2_Intron|HADHA_uc010ykt.1_Intron	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	67					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGAATGTAGCTCTTTACTCAG	0.388000														73			20		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631203	18631203	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:18631203G>A	uc003sui.3	+	3	521	c.480G>A	c.(478-480)acG>acA	p.T160T	HDAC9_uc003sue.3_Silent_p.T157T|HDAC9_uc011jyd.2_Silent_p.T157T|HDAC9_uc003suh.3_Silent_p.T157T|HDAC9_uc003suj.3_Silent_p.T160T|HDAC9_uc011jya.2_Silent_p.T199T|HDAC9_uc003sua.1_Silent_p.T179T|HDAC9_uc003sud.2_Silent_p.T157T|HDAC9_uc011jyc.2_Silent_p.T160T|HDAC9_uc011jyb.2_Silent_p.T157T|HDAC9_uc003suf.2_Silent_p.T188T|HDAC9_uc010kud.2_Silent_p.T160T|HDAC9_uc011jye.2_Silent_p.T129T|HDAC9_uc011jyf.2_Silent_p.T126T|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	157					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATCAGCAACGAAAGACACTC	0.453000														18			6		0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581396	30581396	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:30581396G>A	uc002dyt.2	-	2	1450	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ZNF688_uc002dys.2_Silent_p.F210F|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CTTCCACTGCGAACTTCCTCT	0.706000														22			11		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476955	7476955	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:7476955C>T	uc001qsx.1	+	9	1395	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	465					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATGGGTATTTCTGGTTTGTCG	0.453000														36			3		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132262827	132262827	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:132262827G>A	uc003kyd.3	-	4	1444	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S	AFF4_uc011cxk.2_Missense_Mutation_p.P24S|AFF4_uc003kye.1_Missense_Mutation_p.P346S|AFF4_uc003kyf.4_Missense_Mutation_p.P346S	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	346	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGAAAAGGAAATTTGGAA	0.333000														28			5		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930631	46930631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:46930631G>A	uc003gxg.3	-	8	2259	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	GABRA4_uc021xnz.1_Missense_Mutation_p.R407W|GABRA4_uc021xoa.1_Missense_Mutation_p.R356W	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	426					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGTAAGACCGAGGTGTGCCT	0.448000														88			16		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634244	84634244	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:84634244C>T	uc004eer.2	-	1	362	c.216G>A	c.(214-216)cgG>cgA	p.R72R	POF1B_uc004ees.3_Silent_p.R72R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	72							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGCACTTCCCGTGAGTTGA	0.517000														22			8		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60646446	60646446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:60646446C>T	uc021ule.1	+	16	5181	c.4936C>T	c.(4936-4938)Cga>Tga	p.R1646*		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1646					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CGCACCTCTTCGAAAGCCTGG	0.567000														18			5		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215823979	215823979	+	Silent	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:215823979A>G	uc001hku.1	-	64	14685	c.14298T>C	c.(14296-14298)agT>agC	p.S4766S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4766	Fibronectin type-III 33.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4766S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTAGAGACTGACGATCC	0.532000										HNSCC(13;0.011)				94			46		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263080	167263080	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:167263080G>A	uc002udu.2	-	24	4189	c.4059C>T	c.(4057-4059)atC>atT	p.I1353I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1353					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCATGTGAATGATCCGTGAGA	0.458000														71			17		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918002	15918002	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:15918002G>A	uc002nbq.2	-	0	935	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGAAGGGTGTGAGGACCGTGT	0.512000														71			11		0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65684442	65684442	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:65684442C>T	uc001dby.3	+	3	518	c.271C>T	c.(271-273)Cct>Tct	p.P91S	AK4_uc009wan.3_Missense_Mutation_p.P39S|AK4_uc001dbz.3_Missense_Mutation_p.P91S|AK4_uc001dca.3_Missense_Mutation_p.P91S	NM_203464	NP_982289	P27144	KAD4_HUMAN	Homo sapiens adenylate kinase 4 (AK4), nuclear gene encoding mitochondrial protein, transcript variant 7, mRNA.	91						mitochondrial matrix	ATP binding|GTP binding|adenylate kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TTTAGGTTTTCCTAGGACATT	0.368000														53			10		0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669339	26669339	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:26669339C>T	uc002hax.2	+	5	604	c.585C>T	c.(583-585)ggC>ggT	p.G195G	TNFAIP1_uc002hay.3_Silent_p.G195G|TNFAIP1_uc010waf.2_Silent_p.G91G	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	195					DNA replication|apoptosis|cell migration|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTTCAACGGCCGCGTGCTCT	0.547000														28			8		0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418495	55418495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:55418495G>A	uc001nhs.1	+	0	116	c.116G>A	c.(115-117)gGa>gAa	p.G39E		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G39R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ATTCTTCTGGGAAATCTCCTC	0.388000														37			21		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42824540	42824540	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:42824540C>T	uc002ihf.3	+	10	1133	c.920C>T	c.(919-921)gCc>gTc	p.A307V	DBF4B_uc002ihe.3_Missense_Mutation_p.A121V|DBF4B_uc010wjc.2_Missense_Mutation_p.A307V	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	307					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCAGGAGGCCTTCGAGGAG	0.607000														66			28		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170800057	170800057	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:170800057A>T	uc003fhh.2	-	26	3641	c.3296T>A	c.(3295-3297)gTc>gAc	p.V1099D	TNIK_uc003fhi.2_Missense_Mutation_p.V1044D|TNIK_uc003fhj.2_Missense_Mutation_p.V1070D|TNIK_uc003fhk.2_Missense_Mutation_p.V1091D|TNIK_uc003fhl.2_Missense_Mutation_p.V1015D|TNIK_uc003fhm.2_Missense_Mutation_p.V1036D|TNIK_uc003fhn.2_Missense_Mutation_p.V1062D|TNIK_uc003fho.2_Missense_Mutation_p.V1007D|TNIK_uc003fhg.2_Missense_Mutation_p.V277D|TNIK_uc003fhp.3_Missense_Mutation_p.V31D	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1099	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGTCACAAGGACATTCAGTCC	0.473000														20			6		0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75532995	75532996	+	Missense_Mutation	DNP	GC	AT	AT	rs145993159	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:75532995_75532996GC>AT	uc001jva.3	+	1	799_800	c.756_757GC>AT	c.(754-759)gcgcgg>gcATgg	p.R253W	FUT11_uc001juy.1_Missense_Mutation_p.R251H|FUT11_uc001juz.1_Missense_Mutation_p.R253W	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	253					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TGCCTACCGCGCGGCTACAGGA	0.589000														61			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90084058	90084058	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:90084058C>T	uc003kju.3	+	67	13920	c.13824C>T	c.(13822-13824)ttC>ttT	p.F4608F	GPR98_uc003kjt.3_Silent_p.F2314F|GPR98_uc003kjw.3_Silent_p.F269F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4608	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAGACATTCATTATTAAAC	0.358000														52			5		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155629	111155629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:111155629C>T	uc004epl.1	-	2	1709	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	TRPC5_uc004epm.1_Missense_Mutation_p.E264K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	264					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E264K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCTCCAGTTCCCTGGAGCTC	0.522000														122			50		0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5368904	5368904	+	Missense_Mutation	SNP	C	T	T	rs148568494	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:5368904C>T	uc010jnv.1	+	1	437	c.101C>T	c.(100-102)tCg>tTg	p.S34L	FARS2_uc003mwr.2_Missense_Mutation_p.S34L	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	34					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GCCTGGGGATCGAGGCCTCCT	0.602000														61			26		0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349341	150349341	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:150349341C>T	uc010ntg.2	+	1	1424	c.1286C>T	c.(1285-1287)tCt>tTt	p.S429F		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	429	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCTGCCTCTGGTCACCCC	0.542000														233			70		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67911677	67911677	+	Missense_Mutation	SNP	A	G	G	rs111231628	byFrequency	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:67911677A>G	uc002eur.3	+	6	1062	c.823A>G	c.(823-825)Agc>Ggc	p.S275G	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.S207G|EDC4_uc002eus.3_Missense_Mutation_p.S5G	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	275					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCTCCGCTCCAGCCACAGTAC	0.597000														60			4		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845398	151845398	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:151845398G>A	uc003wla.3	-	51	13833	c.13614C>T	c.(13612-13614)atC>atT	p.I4538I	MLL3_uc003wkz.3_Silent_p.I3656I|MLL3_uc003wkx.3_Silent_p.I696I|MLL3_uc003wky.3_Silent_p.I2102I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4538					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTCGTTGCACGATGCTAGCAA	0.488000			N		medulloblastoma									62			15		0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100963687	100963687	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:100963687A>G	uc001dtf.2	+	13	1833	c.1345A>G	c.(1345-1347)Aaa>Gaa	p.K449E	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.K391E|CDC14A_uc009wed.1_Missense_Mutation_p.K156E|CDC14A_uc001dtg.4_Missense_Mutation_p.K449E|CDC14A_uc009wee.3_Missense_Mutation_p.K449E	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	449					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GAAGACATCAAAAATGGCACT	0.408000														105			24		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67062036	67062036	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:67062036C>T	uc003xvv.3	+	4	986	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	TRIM55_uc003xvu.3_Missense_Mutation_p.H254Y|TRIM55_uc003xvw.3_Missense_Mutation_p.H254Y|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	254						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GTATTCTGATCATTTGGAGAA	0.428000														90			22		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83926279	83926279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:83926279C>T	uc003pjy.3	-	12	1751	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	ME1_uc011dzb.2_Missense_Mutation_p.E421K|ME1_uc011dzc.2_Missense_Mutation_p.E330K	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	496					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.E496K(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGCCGACCCTCTTCCAAGTGT	0.363000														70			15		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631074	6631074	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:6631074G>A	uc001ant.3	+	1	393	c.297G>A	c.(295-297)ggG>ggA	p.G99G	TAS1R1_uc001anu.3_Silent_p.G99G|TAS1R1_uc021ofp.1_Silent_p.G21G	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	99					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCACCCTGGGGTACCAGCTGT	0.557000														148			27		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45245887	45245887	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:45245887G>A	uc001myo.3	+	7	1213	c.964G>A	c.(964-966)Gat>Aat	p.D322N		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	322										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GCGTGGCTTTGATGAGGGGGA	0.512000														150			30		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282067	130282067	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:130282067A>G	uc010htl.3	+	1	251	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	74	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTACAGTGATAAACTTCACAG	0.498000														66			16		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58319857	58319857	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:58319857C>T	uc002enf.3	-	4	901	c.506G>A	c.(505-507)tGg>tAg	p.W169*	PRSS54_uc002eng.3_Nonsense_Mutation_p.W169*|PRSS54_uc010vie.2_Nonsense_Mutation_p.W70*	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTGGGATTCCATCCTGACAC	0.542000														41			15		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936151	4936151	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:4936151G>A	uc001lzr.1	-	0	743	c.743C>T	c.(742-744)tCc>tTc	p.S248F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGATGTGGGAAACACAGGT	0.552000														71			15		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044922	124044922	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:124044922C>T	uc003ehg.3	+	6	1309	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	KALRN_uc010hrv.1_Silent_p.T394T|KALRN_uc003ehf.1_Silent_p.T394T|KALRN_uc011bjy.1_Silent_p.T394T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	394					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGATCTCCACCCAGCTGGACC	0.557000														88			25		0	0	1	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237604	23237605	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:23237604_23237605GG>AA	uc021wmq.1	+	2	652_653	c.378_379GG>AA	c.(376-381)gaggag>gaAAag	p.E127K	abParts_uc021wml.1_Non-coding_Transcript|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.E126K|IGLL5_uc010gtu.2_Non-coding_Transcript|IGLL5_uc021wmr.1_Non-coding_Transcript	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	126	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region		p.L127F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCTCTGAGGAGCTCCAAGC	0.609000														21			16		0	0	1	0	0
TMEM42	131616	broad.mit.edu	37	3	44906594	44906594	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:44906594C>T	uc003cnz.3	+	2	411	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_144638	NP_653239	Q69YG0	TMM42_HUMAN	Homo sapiens transmembrane protein 42 (TMEM42), mRNA.	134						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		GAGGAGTGTTCCTTATTCTCT	0.562000														55			11		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295609	29295609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:29295609C>T	uc002rmt.2	-	0	1519	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	507					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGAGTTTTTTCCTGCCAGGCA	0.562000														105			28		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446671	105446671	+	Silent	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:105446671T>G	uc001tlc.3	-	10	1453	c.1326A>C	c.(1324-1326)ccA>ccC	p.P442P	ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	442	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACACTGGTATGGCATTTTTA	0.363000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			6		0	0	1	0	0
FABP5P3	220832	broad.mit.edu	37	7	152139854	152139854	+	RNA	SNP	A	C	C	rs1972551	by1000genomes	TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:152139854A>C	uc003wlb.3	+	1		c.609A>C								Homo sapiens fatty acid binding protein 5 pseudogene 3 (FABP5P3), non-coding RNA.																		TTTGAAGAAAACACAGCTGAT	0.418000														32			3		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287567	51287567	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:51287567G>A	uc003tps.3	-	1	301	c.116C>T	c.(115-117)cCc>cTc	p.P39L	COBL_uc003tpr.4_Missense_Mutation_p.P39L|COBL_uc011kcl.2_Missense_Mutation_p.P39L|COBL_uc010kzc.3_Missense_Mutation_p.P39L|COBL_uc003tpt.3_Missense_Mutation_p.P39L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	39										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ATCGTGGGGGGGCTTCTGGTC	0.602000														74			10		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081740	17081740	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:17081740C>T	uc002nfb.3	-	17	2347	c.2315G>A	c.(2314-2316)gGg>gAg	p.G772E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	725						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CACCAGGCTCCCTGTGTGGGG	0.602000														59			9		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563969	176563969	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:176563969G>A	uc001gkz.3	+	2	2393	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	PAPPA2_uc001gky.1_Missense_Mutation_p.G410E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	410					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCCTGGGGGGAGACAGCTCT	0.577000														84			45		0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88902635	88902635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:88902635C>T	uc010cid.3	-	6	866	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GALNS_uc002fly.4_Missense_Mutation_p.A203T|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	203						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGAGGTTGGCTTCCCCCGTC	0.527000														22			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62029979	62029979	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:62029979G>A	uc001jky.3	-	4	761	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ANK3_uc010qih.2_Silent_p.F124F|ANK3_uc001jkz.4_Silent_p.F135F|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	141					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACAATGGCGTGAAACCATTCT	0.413000														25			8		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33643561	33643561	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:33643561G>A	uc021ywr.1	+	24	3434	c.3210G>A	c.(3208-3210)ctG>ctA	p.L1070L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1070					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATGCGCCGCTGGTCTCGGGTG	0.647000														28			3		0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99114081	99114081	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:99114081G>A	uc001vnm.1	-	7	1271	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	STK24_uc001vnn.1_Missense_Mutation_p.P334S|STK24_uc010tim.1_Missense_Mutation_p.P315S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	346					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.P346P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGATTCTTGGGATCTTTTTCT	0.507000														89			9		0	0	1	0	0
FOLR1	2348	broad.mit.edu	37	11	71903276	71903276	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:71903276G>A	uc001orz.2	+	2	335	c.59G>A	c.(58-60)gGg>gAg	p.G20E	FOLR1_uc001osa.2_Missense_Mutation_p.G20E|FOLR1_uc001osb.2_Missense_Mutation_p.G20E|FOLR1_uc001osd.2_Missense_Mutation_p.G20E	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	20					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						GCTGTAGTAGGGGAGGCTCAG	0.557000														99			27		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16467100	16467100	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:16467100G>A	uc021trd.1	-	3	1159	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	ZNF287_uc002gqi.2_Nonsense_Mutation_p.Q181*	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	174	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CAGTCCTCCTGGGTGATGTCT	0.408000														57			13		0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29481420	29481420	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:29481420A>T	uc001bro.3	-	3	739	c.366T>A	c.(364-366)gaT>gaA	p.D122E	SRSF4_uc010ofy.2_Intron|SRSF4_uc009vtp.2_Non-coding_Transcript	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	122	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GACGCATATAATCCTGAAGAA	0.348000														56			13		0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4897699	4897699	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:4897699G>A	uc002gak.3	-	2	314	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	INCA1_uc002gam.3_Missense_Mutation_p.P12S|INCA1_uc002gaj.3_Missense_Mutation_p.P12S|INCA1_uc002gal.3_Missense_Mutation_p.P12S	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	12						nucleus				upper_aerodigestive_tract(1)	1						TTGGCAAAGGGGATGAGGTTG	0.522000														45			7		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60689763	60689763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:60689763G>A	uc010ddp.3	+	22	2424	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q	TLK2_uc002izx.4_Missense_Mutation_p.R545Q|TLK2_uc002izz.4_Missense_Mutation_p.R697Q|TLK2_uc002jaa.4_Missense_Mutation_p.R665Q|TLK2_uc010wpd.2_Missense_Mutation_p.R665Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	719	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GCGTTTATTCGACGATGCTTG	0.542000														54			24		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919841	58919841	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:58919841T>A	uc010rkp.2	+	4	927	c.700T>A	c.(700-702)Ttt>Att	p.F234I	FAM111A_uc010rkq.2_Missense_Mutation_p.F234I|FAM111A_uc010rkr.2_Missense_Mutation_p.F234I|FAM111A_uc001nno.3_Missense_Mutation_p.F234I|FAM111A_uc001nnp.3_Missense_Mutation_p.F234I|FAM111A_uc001nnq.3_Missense_Mutation_p.F234I	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	234					proteolysis		serine-type endopeptidase activity	p.S233S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATTTCTTTCCTTTCTGGAGAA	0.413000														106			22		0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2259598	2259598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:2259598C>T	uc010bsh.3	-	4	783	c.548G>A	c.(547-549)cGc>cAc	p.R183H	C16orf79_uc002cpi.2_Missense_Mutation_p.R183H	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	183	BRICHOS.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						CATGCACAGGCGCTGCACCAA	0.692000														146			34		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:126707544T>G	uc003ejg.3	+	0	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000														22			5		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382423	41382423	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:41382423G>A	uc003jmm.1	-	1	419	c.317C>T	c.(316-318)cCc>cTc	p.P106L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	106	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCATTGTCGGGGTCTCTGGG	0.443000														62			12		0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87165116	87165116	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:87165116G>A	uc003ydp.1	+	7	1032	c.963G>A	c.(961-963)aaG>aaA	p.K321K		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	321					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TAAAGCTGAAGGAACAGGAAA	0.358000														54			15		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622378	112622378	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:112622378G>A	uc021reb.1	-	60	10386	c.9990C>T	c.(9988-9990)ccC>ccT	p.P3330P		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGTCTGTGCCGGGGAAGGCCA	0.632000														48			9		0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88296958	88296958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:88296958C>T	uc003ydy.2	+	6	872	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	275										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAGAATGAATCGGAAACACAG	0.378000														13			3		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135000048	135000048	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:135000048C>T	uc001llz.1	+	5	1197	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	KNDC1_uc001lma.1_Missense_Mutation_p.S334L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	399					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCGAGACTTCACACCCCAGC	0.672000														44			10		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934607	30934607	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:30934607C>T	uc002nsu.1	+	1	276	c.138C>T	c.(136-138)gcC>gcT	p.A46A	ZNF536_uc010edd.1_Silent_p.A46A	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAGCCATGCCTTCCCCGAGC	0.677000														112			23		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176519753	176519753	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:176519753C>T	uc003mfl.3	+	7	1192	c.1025C>T	c.(1024-1026)tCc>tTc	p.S342F	FGFR4_uc003mfm.3_Missense_Mutation_p.S342F|FGFR4_uc011dfu.2_Missense_Mutation_p.S342F|FGFR4_uc011dfw.1_Missense_Mutation_p.S342F|FGFR4_uc003mfo.3_Missense_Mutation_p.S342F	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	342	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ATCGGCCTCTCCTACCAGTCT	0.637000										TSP Lung(9;0.080)				93			6		0	0	1	0	0
DEFB119	245932	broad.mit.edu	37	20	29976892	29976892	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:29976892C>T	uc002wvu.1	-	1	323	c.203G>A	c.(202-204)gGc>gAc	p.G68D	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGGTCCAGCCAAGGATTCC	0.413000														62			24		0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53986399	53986399	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:53986399G>A	uc011dxa.2	+	2	285	c.252_splice	c.e2+1	p.R84_splice	MLIP_uc003pcf.2_Splice_Site_p.R73_splice|MLIP_uc003pcg.4_Splice_Site_p.R73_splice|MLIP_uc003pch.4_Intron|MLIP_uc011dwz.1_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	73						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACTGTAAATAGGGTAGGatta	0.299000														40			14		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156556	6156556	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:6156556C>T	uc002mef.1	+	4	728	c.501C>T	c.(499-501)atC>atT	p.I167I	ACSBG2_uc002mee.1_Intron|ACSBG2_uc002meg.1_Silent_p.I167I|ACSBG2_uc002meh.1_Silent_p.I167I|ACSBG2_uc002mei.1_Silent_p.I117I|ACSBG2_uc010xiz.1_Silent_p.I167I	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	167					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGAAAATCCTTTCGGTAA	0.463000														76			18		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142280122	142280122	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:142280122G>A	uc003eux.4	-	4	1434	c.1312C>T	c.(1312-1314)Cta>Tta	p.L438L		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	438					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAAGGGTTTAGAGACGAGCTG	0.373000								Other conserved DNA damage response genes						113			17		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798374	148798374	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:148798374G>A	uc004fdq.3	+	4	1383	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	MAGEA11_uc004fdr.3_Missense_Mutation_p.D381N	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	410	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAATGGGAGGGATCCCACTTC	0.542000														113			26		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23225650	23225650	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:23225650A>G	uc003xdh.1	-	1	554	c.215T>C	c.(214-216)gTg>gCg	p.V72A		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	72	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R71W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTACACCTCCACCCGGCCCTC	0.662000														78			19		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130284164	130284164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:130284164C>T	uc010htl.3	+	2	1019	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	330	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCGGAAGAATCAGGGGGTGCC	0.532000														171			31		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100179449	100179449	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:100179449G>A	uc003uvj.3	-	3	602	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	183					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCCCGCAGGGAAGAGAGGC	0.587000														40			9		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103070115	103070115	+	Silent	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:103070115T>C	uc001phn.1	+	48	8142	c.7998T>C	c.(7996-7998)tcT>tcC	p.S2666S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.S2666S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2666	AAA 4 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCATCACTTCTTTAGTCAGTC	0.448000														20			5		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421422	55421422	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55421422C>T	uc002qib.2	+	4	717	c.679C>T	c.(679-681)Cct>Tct	p.P227S	NCR1_uc002qic.2_Missense_Mutation_p.P227S|NCR1_uc002qie.2_Missense_Mutation_p.P227S|NCR1_uc002qid.2_Missense_Mutation_p.P132S|NCR1_uc002qif.2_Missense_Mutation_p.P132S|NCR1_uc010esj.2_Missense_Mutation_p.P120S	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	227					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCCACCTTTCCTGGTGAGTA	0.478000														168			30		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72416746	72416746	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:72416746C>T	uc003twj.3	+	14	3905	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A	POM121_uc010lam.1_Intron	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1241	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GACTGCAGGCCCGAAGGCAGC	0.582000														69			12		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303294	53303294	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:53303294T>C	uc002qad.3	-	3	1961	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	ZNF28_uc002qac.3_Missense_Mutation_p.T548A|ZNF28_uc010eqe.3_Missense_Mutation_p.T548A|ZNF28_uc021uza.1_Missense_Mutation_p.T549A	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCTCTCCAGTATGAACTCTC	0.443000														143			28		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68654004	68654004	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:68654004G>A	uc010bib.3	-	4	483	c.396C>T	c.(394-396)tcC>tcT	p.S132S	ITGA11_uc002ari.3_Silent_p.S132S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	132					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)	TGGTGTAGTAGGAGCTCCCAC	0.567000														14			3		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851026	160851026	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:160851026C>T	uc001fxc.3	-	4	598	c.482G>A	c.(481-483)tGg>tAg	p.W161*		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	161	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGTTTCTCCAGTGCTGCAT	0.572000														70			43		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400027	47400027	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:47400027C>T	uc001cqp.4	-	7	960	c.909G>A	c.(907-909)ggG>ggA	p.G303G	CYP4A11_uc001cqq.2_Silent_p.G303G|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	303					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ACAAGATGCTCCCATTCTCCA	0.527000														20			7		0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248282	42248282	+	Missense_Mutation	SNP	C	T	T	rs145226168		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:42248282C>T	uc002ifl.1	+	0	209	c.125C>T	c.(124-126)cCg>cTg	p.P42L	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	42					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGCAGGTGCCCGTCAAGTCCC	0.697000														41			5		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253555	30253555	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:30253555C>T	uc001msl.3	+	1	175	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	FSHB_uc001msm.3_Missense_Mutation_p.R36C|FSHB_uc001msn.3_Missense_Mutation_p.R36C	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	36					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	AGAAGAATGTCGTTTCTGCAT	0.453000														47			7		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885633	183885633	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:183885633C>T	uc001gqm.3	+	16	2368	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RGL1_uc010pog.2_Missense_Mutation_p.S599F|RGL1_uc010poh.2_Missense_Mutation_p.S599F|RGL1_uc001gqo.3_Missense_Mutation_p.S601F|RGL1_uc010poi.2_Missense_Mutation_p.S572F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	601					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	p.S636F(4)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GACACAAATTCCTCAGGGATG	0.507000														84			57		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610233	47610233	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:47610233G>A	uc001cqv.1	+	7	960	c.909G>A	c.(907-909)ggG>ggA	p.G303G	CYP4A22_uc009vyo.3_Silent_p.G303G|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	303						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGAGAATGGGAGCATCTTGT	0.532000														142			7		0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90958506	90958506	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:90958506C>T	uc003yej.1	-	12	2042	c.1932G>A	c.(1930-1932)caG>caA	p.Q644Q	NBN_uc011lgb.1_Silent_p.Q644Q|NBN_uc003yei.1_Silent_p.Q562Q	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	644					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CACTATCATCCTGAAGTTTGT	0.333000								Homologous recombination						66			14		0	0	1	0	0
CPLX1	10815	broad.mit.edu	37	4	786358	786358	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:786358C>T	uc003gbi.3	-	2	261	c.70G>A	c.(70-72)Gag>Aag	p.E24K	CPLX1_uc003gbj.3_Missense_Mutation_p.E24K	NM_006651	NP_006642	O14810	CPLX1_HUMAN	Homo sapiens complexin 1 (CPLX1), mRNA.	24					glutamate secretion	cytosol				kidney(1)|lung(2)	3				Colorectal(103;0.187)		TCCTTCTCCTCGTCACCCCCC	0.642000														111			11		0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81897449	81897449	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:81897449G>A	uc003ybz.3	-	6	1149	c.438C>T	c.(436-438)ctC>ctT	p.L146L		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	146					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TTCTCGCCGTGAGCATGGTAT	0.587000														56			10		0	0	1	0	0
SLC6A7	6534	broad.mit.edu	37	5	149589031	149589031	+	Silent	SNP	G	A	A	rs150439561		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:149589031G>A	uc003lrr.3	+	13	2135	c.1764G>A	c.(1762-1764)acG>acA	p.T588T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA.	588						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AGAACCGGACGGGCATGTATG	0.617000														55			4		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421412	55421412	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55421412C>T	uc002qib.2	+	4	707	c.669C>T	c.(667-669)gaC>gaT	p.D223D	NCR1_uc002qic.2_Silent_p.D223D|NCR1_uc002qie.2_Silent_p.D223D|NCR1_uc002qid.2_Silent_p.D128D|NCR1_uc002qif.2_Silent_p.D128D|NCR1_uc010esj.2_Silent_p.D116D	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	223					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CACCTGAAGACCCCACCTTTC	0.448000														168			30		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239242	100239242	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:100239242C>T	uc003hus.4	-	2	304	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ADH1B_uc003hut.4_Missense_Mutation_p.V34M|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.V34M	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	74					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACACTCTCCACGATGCCGGCT	0.542000														166			39		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105212583	105212583	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:105212583G>A	uc001ypd.3	+	11	1256	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ADSSL1_uc001ype.3_Silent_p.E437E|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	394					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTAACCAGGAGATGCTTCAGA	0.602000														65			20		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692639	31692639	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:31692639G>A	uc010zue.2	+	13	1719	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	568						cytoplasm|extracellular region	lipid binding										AGGTGCTGGTGGAGAAGATTT	0.602000														62			10		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645543	45645543	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr5:45645543G>A	uc003jok.3	-	1	618	c.593C>T	c.(592-594)aCt>aTt	p.T198I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	198						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCATTGACAGTCCCAGTCCT	0.383000														43			11		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908812	139908812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:139908812G>A	uc004ckm.1	-	26	4185	c.4135C>T	c.(4135-4137)Ccg>Tcg	p.P1379S	ABCA2_uc022bpy.1_Missense_Mutation_p.P1280S|ABCA2_uc022bpz.1_Missense_Mutation_p.P1350S|ABCA2_uc011mem.1_Missense_Mutation_p.P1349S|ABCA2_uc004ckl.1_Missense_Mutation_p.P1280S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1349					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCAGACGCCGGGCCCTCCGCC	0.692000														8			3		0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231674	24231674	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:24231674G>A	uc003ccz.4	-	5	694	c.174C>T	c.(172-174)ctC>ctT	p.L58L	THRB_uc010hfe.3_Silent_p.L58L|THRB_uc003ccy.4_Silent_p.L58L|THRB_uc003ccx.4_Silent_p.L58L|THRB_uc003cdc.3_Silent_p.L53L|THRB_uc003cdd.3_Silent_p.L53L|THRB_uc003cde.1_Silent_p.L53L|THRB_uc021wuc.1_Silent_p.L53L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	58	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGTCTGGATGAGATGTGGCG	0.498000														95			21		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145431	58145431	+	Missense_Mutation	SNP	G	A	A	rs11547328		TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:58145431G>A	uc001spv.3	-	1	362	c.70C>T	c.(70-72)Cgt>Tgt	p.R24C	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGGGGATCACGGGCCTTGTAC	0.557000			Mis			melanoma			Hereditary Melanoma					69			16		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129236373	129236373	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr3:129236373C>T	uc003eml.3	+	27	3686	c.3480C>T	c.(3478-3480)tcC>tcT	p.S1160S	IFT122_uc003emm.3_Silent_p.S1109S|IFT122_uc003emn.3_Silent_p.S1050S|IFT122_uc003emo.3_Silent_p.S999S|IFT122_uc003emp.3_Silent_p.S959S|IFT122_uc010htc.3_Silent_p.S1102S|IFT122_uc011bky.2_Silent_p.S900S|IFT122_uc011bla.2_Silent_p.S883S|IFT122_uc003emr.3_Silent_p.S862S|IFT122_uc010hte.3_Silent_p.S435S|IFT122_uc003ems.3_Silent_p.S491S	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1109					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAGCCATCTCCCTCATCGACC	0.572000														80			21		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958528	121958528	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:121958528G>A	uc003idq.1	-	3	1125	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	200										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAGGCAGTGGGGCTTGGTTTC	0.498000														130			23		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96422565	96422565	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:96422565C>T	uc004aub.3	+	11	1568	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	PHF2_uc011lug.1_Missense_Mutation_p.S357F|PHF2_uc004auc.3_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	474	Pro-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAGCCCCCGTCTCCCATTGAG	0.562000														15			3		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152443755	152443755	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr6:152443755C>T	uc021zhb.1	-	143	26433	c.26210G>A	c.(26209-26211)gGc>gAc	p.G8737D	SYNE1_uc003qos.4_Missense_Mutation_p.G3261D|SYNE1_uc003qot.4_Missense_Mutation_p.G8689D|SYNE1_uc003qou.4_Missense_Mutation_p.G8737D|SYNE1_uc011eez.2_3'UTR|SYNE1_uc003qoq.4_3'UTR|SYNE1_uc003qor.4_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8737					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGCCGCGGCCGGACCGACC	0.557000										HNSCC(10;0.0054)				89			25		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752674	36752674	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:36752674C>T	uc001cae.4	+	3	1067	c.843C>T	c.(841-843)tcC>tcT	p.S281S	THRAP3_uc001caf.4_Silent_p.S281S|THRAP3_uc001cag.1_Silent_p.S281S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	281	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGCACATCCCAGATGGGCT	0.597000			T	USP6	aneurysmal bone cysts									140			26		0	0	1	0	0
TM9SF3	56889	broad.mit.edu	37	10	98325147	98325147	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:98325147A>G	uc001kmm.4	-	2	552	c.335T>C	c.(334-336)tTa>tCa	p.L112S		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	112						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TTCTTTATCTAAATCAATTTC	0.303000														55			17		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887600	9887600	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:9887600C>T	uc002koi.4	+	1	1573	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	TXNDC2_uc002koh.4_Missense_Mutation_p.P308L|TXNDC2_uc021ugx.1_Missense_Mutation_p.P308L	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	375	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GGTGACATTCCCAAGTCTCCA	0.562000														148			66		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134026040	134026041	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:134026040_134026041CC>AG	uc004cag.3	+	15	2276_2277	c.2165_2166CC>AG	c.(2164-2166)gcc>gAG	p.A722E	NUP214_uc004cah.3_Missense_Mutation_p.A712E|NUP214_uc004cai.3_Missense_Mutation_p.A152E|NUP214_uc004caf.1_Missense_Mutation_p.A711E|NUP214_uc010mzf.3_Missense_Mutation_p.A20E	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	722	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGTTAAAAGCCCGAACTTCCA	0.436000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									75			27		0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1019746	1019746	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:1019746C>T	uc001act.2	-	10	1083	c.597G>A	c.(595-597)ccG>ccA	p.P199P	C1orf159_uc001acu.2_Silent_p.P163P|C1orf159_uc001acr.2_Non-coding_Transcript|C1orf159_uc001acs.2_Non-coding_Transcript|C1orf159_uc010nyd.1_Non-coding_Transcript|C1orf159_uc001acn.2_Silent_p.P163P	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	199						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGACTGTGGCGGGGGGATCA	0.622000														20			6		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737228	157737228	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:157737228G>A	uc001fre.2	-	5	1014	c.955C>T	c.(955-957)Ctt>Ttt	p.L319F	FCRL2_uc001frd.2_Missense_Mutation_p.L66F|FCRL2_uc010phz.1_Missense_Mutation_p.L319F|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	319	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCACAGTGAAGCTCCAGCAGG	0.597000														52			23		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88723977	88723977	+	Silent	SNP	G	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr16:88723977G>C	uc002flg.1	-	3	277	c.270C>G	c.(268-270)gcC>gcG	p.A90A	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	90					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCCGGGCCAGGCAGC	0.687000														39			14		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542680	14542680	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:14542680C>T	uc010dln.3	-	0	920	c.466G>A	c.(466-468)Gat>Aat	p.D156N	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	156								p.D156Y(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACGATGAGATCCTTTCTGGGG	0.582000														239			29		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125787137	125787137	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:125787137C>T	uc001qcz.4	+	8	1170	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	DDX25_uc010sbk.2_Silent_p.I343I	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	343	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGGCCATCATCTTCTGCCAGG	0.512000														5			2		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127426930	127426930	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr10:127426930C>T	uc001liq.1	+	14	2190	c.1897C>T	c.(1897-1899)Cca>Tca	p.P633S	C10orf137_uc001lin.3_Missense_Mutation_p.P599S|C10orf137_uc001lip.1_Missense_Mutation_p.P337S|C10orf137_uc001lio.1_Missense_Mutation_p.P599S|C10orf137_uc001lir.3_Missense_Mutation_p.P127S|C10orf137_uc001lis.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCCAGCACTCCAATCCCGTT	0.433000														63			11		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382583	22382583	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr15:22382583C>T	uc001yuc.1	+	6	1092	c.111C>T	c.(109-111)atC>atT	p.I37I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.I37I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTACCTTATCATCCTCCCTG	0.433000														287			38		0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46357800	46357800	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr13:46357800C>T	uc001vap.3	-	1	610	c.528G>A	c.(526-528)agG>agA	p.R176R		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	176					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GCCCTTCATGCCTCTCCTGTT	0.592000														30			5		0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41092808	41092808	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:41092808C>T	uc002oob.3	+	12	1343	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	SHKBP1_uc002ooc.3_Missense_Mutation_p.P407S|SHKBP1_uc010xvl.1_Missense_Mutation_p.P355S|SHKBP1_uc002ooe.3_Missense_Mutation_p.P269S|SHKBP1_uc010xvm.2_Intron|SHKBP1_uc010xvn.2_Missense_Mutation_p.P310S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	432						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCACCGCAGCCCTGTCACCAA	0.627000														128			30		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904055	139904055	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:139904055G>A	uc004ckm.1	-	43	6809	c.6759C>T	c.(6757-6759)ttC>ttT	p.F2253F	ABCA2_uc022bpy.1_Silent_p.F2154F|ABCA2_uc022bpz.1_Silent_p.F2224F|ABCA2_uc011mem.1_Silent_p.F2223F|ABCA2_uc004ckl.1_Silent_p.F2154F|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2223	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGTTCCAGAGGAAGCGCCGGG	0.662000														68			14		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253824	134253824	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:134253824G>T	uc001qhq.3	-	3	632	c.371C>A	c.(370-372)cCg>cAg	p.P124Q	B3GAT1_uc001qhr.3_Missense_Mutation_p.P124Q|B3GAT1_uc010scv.1_Missense_Mutation_p.P137Q	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	124					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCCGGCGCGGCGCATCCTC	0.706000														10			9		0.00829132	0.00833825	1	1	0
APOB	338	broad.mit.edu	37	2	21232139	21232139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:21232139C>T	uc002red.3	-	25	7729	c.7601G>A	c.(7600-7602)cGa>cAa	p.R2534Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2534					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACAGGTATCGTTGAAGTTC	0.453000														55			17		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049442	175049442	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:175049442C>T	uc001gkl.1	+	3	1041	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	TNN_uc010pmx.1_Missense_Mutation_p.P310S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	310	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GATCCAAGTGCCCAAGGAGCA	0.547000														47			18		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175854	55175854	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:55175854G>A	uc002qgp.3	+	3	935	c.573G>A	c.(571-573)ggG>ggA	p.G191G	LILRB4_uc002qgq.3_Silent_p.G191G|LILRB4_uc010ers.1_Silent_p.G104G|LILRB4_uc010ert.3_Silent_p.G232G|LILRB4_uc010eru.3_Silent_p.G220G	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	191	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCACGGGGGGACCTACAGGT	0.612000														97			19		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62168510	62168510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr20:62168510G>A	uc002yfg.3	-	0	198	c.158C>T	c.(157-159)gCg>gTg	p.A53V	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.A53V	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	53	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GGCCCCACCCGCCTCGTCCAG	0.682000														23			10		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3389554	3389554	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:3389554G>A	uc001qlp.3	+	5	520	c.337G>A	c.(337-339)Gag>Aag	p.E113K	TSPAN9_uc021qtd.1_Missense_Mutation_p.E113K	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	113						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCAGGTGAACGAGAACGCCAA	0.607000														53			12		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236507	33236507	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:33236507G>A	uc001bvu.1	+	5	1771	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	KIAA1522_uc010ohm.1_Missense_Mutation_p.R528Q|KIAA1522_uc001bvv.2_Missense_Mutation_p.R517Q|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	517	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCCCCAGAACGGACACTTTCG	0.682000														39			7		0	0	1	0	0
THUMPD2	80745	broad.mit.edu	37	2	39997187	39997187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:39997187C>T	uc002rru.2	-	2	372	c.335G>A	c.(334-336)tGg>tAg	p.W112*	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Nonsense_Mutation_p.W19*|THUMPD2_uc010ynu.1_Nonsense_Mutation_p.W112*	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	112							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AAGATTTTTCCAAATTGAAAT	0.299000														26			5		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr22:51012928G>A	uc003bmm.3	-	7	978	c.879C>T	c.(877-879)atC>atT	p.I293I	CPT1B_uc003bmk.4_Silent_p.I293I|CPT1B_uc003bml.3_Silent_p.I293I|CPT1B_uc003bmo.3_Silent_p.I293I|CPT1B_uc011asa.2_Silent_p.I259I|CPT1B_uc003bmn.3_Silent_p.I293I|CPT1B_uc011asb.2_Silent_p.I293I|CPT1B_uc003bmp.3_Silent_p.I90I|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	293					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557000														165			13		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78803511	78803511	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:78803511G>T	uc004akc.2	+	17	2838	c.2300G>T	c.(2299-2301)tGc>tTc	p.C767F	PCSK5_uc004ajz.3_Missense_Mutation_p.C767F|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.C41F	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	767	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGATCCCGGTGCTCTGTCTCC	0.517000														69			13		1.05317e-09	1.07536e-09	1	1	0
CCDC25	55246	broad.mit.edu	37	8	27610053	27610053	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:27610053G>A	uc003xgc.3	-	4	333	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Missense_Mutation_p.L6F|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Non-coding_Transcript|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	74										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GCCTTCACAAGGTGGGCACAG	0.408000														47			14		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721163	65721163	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:65721163G>A	uc001ogk.1	+	5	1306	c.1274G>A	c.(1273-1275)gGg>gAg	p.G425E	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	426										endometrium(2)|kidney(3)|lung(9)	14						GCACCCAGAGGGAGCCGGGGC	0.736000														17			4		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74135866	74135866	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr2:74135866G>A	uc002sjw.3	+	3	444	c.322G>A	c.(322-324)Gag>Aag	p.E108K	ACTG2_uc010yrn.2_Missense_Mutation_p.E65K|ACTG2_uc010fey.3_Missense_Mutation_p.E108K	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	108					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CCTGCTCACAGAGGCTCCCCT	0.522000														42			5		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942401	52942401	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:52942401C>T	uc002pzk.3	+	3	1794	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.S563L	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGTCGGAATTCACACCTTGCG	0.458000														13			5		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17690148	17690148	+	Silent	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr1:17690148C>T	uc001baj.2	+	15	1918	c.1890C>T	c.(1888-1890)atC>atT	p.I630I		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	630					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GCACCTTCATCAACGACTTCT	0.612000														37			15		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124755021	124755021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:124755021C>T	uc001qbg.3	-	16	3057	c.2917G>A	c.(2917-2919)Gga>Aga	p.G973R	ROBO4_uc010sas.2_Missense_Mutation_p.G828R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	973					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.L972L(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ATCCCCCTTCCCAGCCGCTGG	0.612000														57			22		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86921785	86921785	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr4:86921785G>A	uc003hpk.3	+	9	2606	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q	ARHGAP24_uc003hpl.3_Silent_p.Q624Q|ARHGAP24_uc010ikf.3_Silent_p.Q634Q|ARHGAP24_uc003hpm.3_Silent_p.Q626Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	719					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		ACATGCTACAGAAAGAAATGG	0.423000														28			8		0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:109764617G>A	uc004eos.1	+	0		c.1078G>A								Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA.																		CTGAATGGGGGAACCTGCATG	0.577000														105			22		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138604144	138604144	+	Silent	SNP	G	A	A			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr7:138604144G>A	uc011kql.2	-	1	277	c.228C>T	c.(226-228)tcC>tcT	p.S76S	KIAA1549_uc011kqj.2_Silent_p.S76S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	76						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGAGCTCCATGGAGTATAAAG	0.502000			O	BRAF	pilocytic astrocytoma									61			25		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435948	50435948	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:50435948C>T	uc010enq.2	+	3	1030	c.448C>T	c.(448-450)Ctc>Ttc	p.L150F	IL4I1_uc002pqu.2_5'Flank|IL4I1_uc010eno.2_5'Flank|IL4I1_uc002pqv.2_5'Flank|NUP62_uc002pqy.3_5'Flank|NUP62_uc002pra.3_5'Flank|NUP62_uc002pqz.3_5'Flank|NUP62_uc002prc.3_5'Flank|ATF5_uc002prd.3_Missense_Mutation_p.L150F|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	150	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCTTTGACCTCCCCCAGCC	0.697000														12			4		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982392	57982392	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr11:57982392T>C	uc010rkc.2	+	0	176	c.176T>C	c.(175-177)aTt>aCt	p.I59T		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GGGCTCATCATTGTGGCTATC	0.458000														160			6		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915685	136915686	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr9:136915685_136915686GG>AA	uc004cew.3	-	4	712_713	c.524_525CC>TT	c.(523-525)tcc>tTT	p.S175F	BRD3_uc004cex.2_Missense_Mutation_p.S175F	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	175						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGAGACAGAGGACACGGCCGC	0.594000			T	C15orf55	lethal midline carcinoma of young people									44			12		0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:57485446T>C	uc001smz.3	+	1	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000														26			6		0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75262744	75262745	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr8:75262744_75262745GG>AA	uc003yah.3	+	0	127_128	c.48_49GG>AA	c.(46-51)gcggaa>gcAAaa	p.E17K	GDAP1_uc011lfj.2_5'UTR|GDAP1_uc003yai.3_Intron	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	17				AE -> GK (in Ref. 1; CAA76892).		cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCTTGAGGGCGGAAGGCAAGGC	0.644000														52			13		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	199	---	---	8	---					
CDC42BPB	9578	broad.mit.edu	37	14	103442332	103442332	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr14:103442332delG	uc001ymi.1	-	9	1507	c.1275delC	c.(1273-1275)accfs	p.T425fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	425					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCATCTTTGGTTAATGTGT	0.488													---	101	---	---	25	---					
ABCA5	23461	broad.mit.edu	37	17	67250604	67250606	+	In_Frame_Del	DEL	TCT	-	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr17:67250604_67250606delTCT	uc002jif.2	-	30	5312_5314	c.4094_4096delAGA	c.(4093-4098)gagaca>gca	p.1365_1366ET>A	ABCA5_uc002jib.2_In_Frame_Del_p.331_332ET>A|ABCA5_uc002jic.2_In_Frame_Del_p.588_589ET>A|ABCA5_uc002jid.2_In_Frame_Del_p.282_283ET>A|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_In_Frame_Del_p.1365_1366ET>A	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1365	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCACTTGTCTCTGAAGAATA	0.330													---	54	---	---	7	---					
RNMT	8731	broad.mit.edu	37	18	13742527	13742528	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr18:13742527_13742528insTA	uc002ksk.1	+	6	1082_1083	c.1015_1016insTA	c.(1015-1017)gaafs	p.E339fs	RNMT_uc002ksl.1_Frame_Shift_Ins_p.E339fs|RNMT_uc002ksm.1_Frame_Shift_Ins_p.E339fs|RNMT_uc010dlk.2_Frame_Shift_Ins_p.E339fs|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	339					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ATTTGGAAATGAAATATATACT	0.337													---	68	---	---	29	---					
ZNF556	80032	broad.mit.edu	37	19	2878502	2878502	+	Splice_Site	DEL	A	-	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chr19:2878502delA	uc002lwq.3	+	4	1631	c.1544_splice	c.e4+1			NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cgtctctactaaaaaaaaaaa	0.557													---	4	---	---	2	---					
FANCB	2187	broad.mit.edu	37	X	14882681	14882689	+	Splice_Site	DEL	CCTGAAAGC	-	-			TCGA-ER-A19W-06A-41D-A23B-08	TCGA-ER-A19W-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fe93719-0633-4aac-bbe8-ee6c0d48e981	69727007-c57f-4d38-9cf5-86df8a3c9cd2	g.chrX:14882681_14882689delCCTGAAAGC	uc004cwg.1	-	3	1219	c.951_splice	c.e3+1	p.Q317_splice	FANCB_uc004cwh.1_Splice_Site_p.Q317_splice	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	317					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAGTGTTGTACCTGAAAGCTCTCTTTCCA	0.364								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	42	---	---	11	---